P19429
PR
Gene name |
TNNI3 (TNNC1) |
Protein name |
Troponin I, cardiac muscle |
Names |
Cardiac troponin I |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7137 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
40 structures for P19429
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1J1D | X-ray | 261 A | C/F | 31-163 | PDB |
| 1J1E | X-ray | 330 A | C/F | 31-210 | PDB |
| 1LXF | NMR | - | I | 148-164 | PDB |
| 1MXL | NMR | - | I | 148-164 | PDB |
| 1OZS | NMR | - | B | 129-148 | PDB |
| 2KGB | NMR | - | I | 145-164 | PDB |
| 2KRD | NMR | - | I | 148-164 | PDB |
| 2L1R | NMR | - | B | 145-164 | PDB |
| 2MZP | NMR | - | I | 145-171 | PDB |
| 2N7L | NMR | - | C | 145-174 | PDB |
| 4Y99 | X-ray | 200 A | C | 1-210 | PDB |
| 5VLN | NMR | - | A | 139-164 | PDB |
| 5W88 | NMR | - | A | 133-164 | PDB |
| 5WCL | NMR | - | A | 139-164 | PDB |
| 6KN7 | EM | 660 A | U/b | 41-210 | PDB |
| 6KN8 | EM | 480 A | U/b | 41-166 | PDB |
| 6MV3 | NMR | - | A | 139-164 | PDB |
| 7JGI | NMR | - | A | 139-164 | PDB |
| 7SC2 | X-ray | 181 A | A | 139-164 | PDB |
| 7SC3 | X-ray | 223 A | A | 139-164 | PDB |
| 7SUP | NMR | - | A | 147-180 | PDB |
| 7SVC | NMR | - | A | 147-180 | PDB |
| 7SWG | NMR | - | A | 147-180 | PDB |
| 7SWI | NMR | - | A | 147-180 | PDB |
| 7SXC | NMR | - | A | 147-180 | PDB |
| 7SXD | NMR | - | A | 147-180 | PDB |
| 7UH9 | NMR | - | A | 139-164 | PDB |
| 7UHA | NMR | - | A | 139-164 | PDB |
| 7UTI | EM | 480 A | V/a | 1-210 | PDB |
| 7UTL | EM | 660 A | V/c | 1-210 | PDB |
| 8DZV | X-ray | 120 A | C | 40-52 | PDB |
| 8FMM | X-ray | 311 A | C/F | 32-166 | PDB |
| 8FMN | X-ray | 310 A | C/F | 32-166 | PDB |
| 8FMO | X-ray | 261 A | C/F | 32-166 | PDB |
| 8FMP | X-ray | 324 A | C/F | 32-166 | PDB |
| 8FMQ | X-ray | 325 A | C/F | 32-166 | PDB |
| 8FMR | X-ray | 324 A | C/F | 32-166 | PDB |
| 8FMS | X-ray | 344 A | C/F | 32-166 | PDB |
| 8FMT | X-ray | 280 A | C/F | 32-166 | PDB |
| AF-P19429-F1 | Predicted | AlphaFoldDB |
332 variants for P19429
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000036273 rs397516341 RCV001729362 |
1 | M>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000036309 RCV000013240 VAR_043989 RCV001753445 RCV002513379 rs397516359 CA022031 RCV000769534 |
2 | A>V | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 2A CMD2A [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001219800 rs2085744165 |
3 | D>Y | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002350559 RCV001308925 rs1351385449 CA407443505 |
4 | G>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2085740955 RCV001227637 |
5 | S>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs989588363 RCV001305113 RCV001182196 CA310150545 |
5 | S>R | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001184358 rs2085739021 |
10 | R>G | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001180476 rs2085738998 |
10 | R>S | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs768052584 RCV001876174 CA051333 RCV001185813 |
12 | P>L | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003163387 RCV001175475 RCV001182994 CA051305 rs553214254 |
12 | P>S | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs2085738631 RCV001188494 |
17 | A>missing | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001180213 rs779416591 |
18 | P>A | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779416591 RCV001858852 CA051703 |
18 | P>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001191348 CA051852 rs755862334 RCV000694571 |
19 | I>V | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs267607128 CA022092 RCV001851817 RCV000013247 RCV002354158 |
21 | R>C | Variant assessed as Somatic; impact. Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs267607128 RCV000809848 CA407443093 |
21 | R>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002557471 rs2085738602 RCV001170845 |
22 | R>G | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397516360 RCV000808735 CA022115 RCV000036310 |
22 | R>H | Variant assessed as Somatic; impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA407443073 RCV000628892 rs397516360 |
22 | R>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000786226 rs1555864374 RCV000546206 CA407443069 |
23 | S>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001176114 rs2085738445 |
24 | S>missing | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1056846497 RCV001190554 CA310150385 |
24 | S>F | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2085738488 RCV001306062 |
24 | S>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001181194 rs2085738407 |
25 | N>D | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001180969 rs1555864368 |
25 | N>I | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA407443015 RCV000774299 rs1568859781 |
25 | N>K | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555864368 CA407443026 RCV000628900 |
25 | N>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555864366 RCV002259377 RCV001036946 RCV002416335 |
27 | R>C | Hypertrophic cardiomyopathy Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000800634 RCV000606248 rs1555864366 RCV002420584 CA407442984 |
27 | R>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001344454 rs2085738286 |
29 | Y>C | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000814858 RCV001183000 RCV000246508 rs796104366 CA10587918 RCV000493547 |
30 | A>T | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002477765 CA052001 RCV000774233 rs201928445 RCV002370039 RCV000812844 |
31 | T>M | Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 2A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1251941984 RCV001202093 |
34 | H>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001135163 rs1190447904 RCV001135162 RCV001133670 RCV001133669 |
35 | A>D | Cardiomyopathy, familial restrictive, 1 Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Hypertrophic cardiomyopathy 7 Dilated cardiomyopathy 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
CA407442832 RCV000556107 rs1190447904 RCV001191186 RCV002481745 |
35 | A>V | Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 2A [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_063548 rs267607130 CA021239 RCV000013243 |
36 | K>Q | Dilated cardiomyopathy 1FF CMD1FF [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001319961 rs772607683 |
38 | K>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000159209 RCV002453554 RCV001850237 RCV001525777 rs730881066 CA021251 |
38 | K>N | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002489148 RCV001184324 rs772607683 RCV000484567 RCV001865440 |
39 | S>missing | Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001876150 rs2085732731 RCV001184655 |
39 | S>C | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2085732683 RCV001178001 |
41 | I>N | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2085732640 RCV001203526 RCV001799048 |
42 | S>F | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001305951 rs2085732607 |
43 | A>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001058132 RCV002381521 rs730881085 RCV000159256 CA021278 |
44 | S>W | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2085732554 RCV001189336 |
46 | K>* | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001051959 RCV001798763 RCV002253343 RCV000656735 CA050324 rs200720341 RCV000253227 |
48 | Q>P | Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 2A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001190032 rs1162696593 |
50 | K>missing | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA407442118 RCV001189767 rs1366283106 |
51 | T>I | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000704620 rs775512887 CA050551 RCV001185161 |
55 | Q>P | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA021335 RCV000152090 rs727503509 RCV001850073 |
56 | I>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002483314 CA021328 RCV000798666 RCV003162619 RCV000152091 rs545441942 |
56 | I>T | Hypertrophic cardiomyopathy Dilated cardiomyopathy 2A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10583865 rs878853955 RCV001668391 RCV000226371 RCV000253395 |
58 | K>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878853955 RCV001181753 |
58 | K>T | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2085729446 RCV001182605 |
59 | Q>E | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001189077 rs2085729410 |
60 | E>G | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA407441938 RCV000786225 rs1357844466 RCV000530156 |
62 | E>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000628965 CA407441911 rs1245885836 |
64 | E>* | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1057518784 RCV000415365 RCV002418239 CA16043560 RCV001183815 |
65 | A>V | Cardiomyopathy Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001526043 RCV000159255 RCV002415672 RCV000223861 RCV001237455 RCV002281968 rs727504872 RCV002056120 RCV001254648 |
69 | R>missing | Cardiomyopathy Hypertrophic cardiomyopathy Primary dilated cardiomyopathy Primary familial dilated cardiomyopathy Dilated cardiomyopathy 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
CA407441846 RCV001280802 rs1401968020 |
69 | R>H | Hypertrophic cardiomyopathy 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000544914 rs1555864037 CA407441850 |
69 | R>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730881067 RCV001170623 CA021374 RCV000159210 |
70 | G>R | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1170054667 RCV002290620 RCV001184184 CA407441801 RCV001238583 |
73 | G>R | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000243062 rs886039022 RCV002223831 RCV002494790 RCV001859455 CA10587919 |
74 | R>P | Hypertrophic cardiomyopathy Dilated cardiomyopathy 2A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002427501 rs375795196 RCV001191247 RCV001040106 CA050678 |
74 | R>S | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001191758 rs2085728638 |
79 | R>missing | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000464815 VAR_029453 RCV001170622 rs3729712 RCV001135032 RCV001135031 RCV000721099 RCV001135029 CA021395 RCV000036275 RCV000253834 RCV000991060 RCV001135030 |
79 | R>C | Cardiomyopathy, familial restrictive, 1 Cardiomyopathy Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 7 Dilated cardiomyopathy 2A Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000036276 rs397516342 RCV001322573 CA021404 RCV000769531 |
79 | R>L | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs3729712 CA407441751 RCV001183443 |
79 | R>S | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001176820 rs2085728611 |
80 | C>AL* | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001233706 rs752503819 |
82 | P>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001170621 CA050791 rs752503819 |
82 | P>R | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000252511 VAR_016078 RCV001133540 RCV000013233 RCV000277490 RCV000238609 RCV002482859 RCV000367372 CA021411 RCV000271700 RCV000036277 RCV001135028 RCV000224174 RCV000229361 rs77615401 RCV000852767 |
82 | P>S | Familial restrictive cardiomyopathy Cardiomyopathy, familial restrictive, 1 Cardiomyopathy Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Dilated Cardiomyopathy, Recessive Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 7 Dilated cardiomyopathy 2A Amyloidogenic transthyretin amyloidosis risk factor for CMH7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2085728343 RCV001185382 |
87 | G>A | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA407441700 rs1276684253 RCV001179265 CA050901 |
87 | G>R | Cardiomyopathy [ClinVar] | Yes |
ClinGen Ensembl ClinVar dbSNP |
|
RCV001333390 RCV002433655 RCV001371359 rs727503507 RCV000152088 |
88 | L>missing | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1568859108 CA407441677 RCV001178784 |
91 | A>T | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2085728215 RCV001185522 |
92 | E>K | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001179127 CA050976 RCV000628987 rs776035548 |
93 | L>P | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002478481 rs730881068 RCV001170620 RCV003162667 RCV000628957 RCV000159212 CA021463 |
98 | R>* | Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 2A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000772060 RCV001851483 rs747522089 CA051127 RCV000523164 |
98 | R>Q | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA051136 rs773216333 RCV001184300 RCV001193548 RCV000498021 |
100 | L>F | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001170619 RCV001238766 RCV000152087 CA021485 rs374618872 RCV002444628 |
102 | A>T | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001188098 RCV002223769 RCV000036283 CA021492 rs397516344 RCV001852753 RCV000853159 RCV002319433 |
103 | R>C | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000198680 CA338104 rs397516344 |
103 | R>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs371000425 RCV000159214 RCV000800572 RCV001190438 COSM267609 RCV003137689 CA021498 RCV000617578 |
103 | R>H | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy large_intestine Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM713518 RCV000694460 CA310148848 rs371000425 |
103 | R>L | lung Variant assessed as Somatic; impact. Hypertrophic cardiomyopathy [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA407441130 RCV001186376 rs397516344 |
103 | R>S | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA051220 RCV001190937 rs750350912 RCV001297941 |
106 | K>N | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs766958196 RCV001176652 RCV001047601 CA051228 |
108 | D>N | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000628991 rs1555863719 CA407441073 |
108 | D>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000628931 rs1555863715 |
111 | R>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000818370 RCV002453557 CA021503 RCV000159259 RCV001190439 rs730881088 |
111 | R>G | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1599909659 CA407441039 RCV000801838 |
111 | R>I | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002453555 CA021515 RCV000778011 RCV001294731 RCV000159215 rs730881070 |
114 | I>V | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001333391 RCV001187428 RCV000698206 VAR_067264 CA051291 rs777177571 |
116 | A>G | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 7 CMD1FF [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001188524 rs2085716374 |
116 | A>T | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs777177571 RCV001202874 |
116 | A>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002492632 rs184709702 RCV002453556 RCV000159216 CA021527 RCV000231010 |
119 | T>I | Hypertrophic cardiomyopathy Dilated cardiomyopathy 2A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000788296 rs184709702 RCV001333392 RCV001256760 RCV001179078 RCV000036284 CA021520 RCV000792760 RCV000246112 RCV002504885 |
119 | T>N | Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 2A Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2085716252 RCV001188560 |
121 | N>I | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001256922 rs2085716232 |
122 | I>M | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001185542 RCV001219056 rs397516345 RCV000036285 CA021546 |
123 | T>M | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000152086 RCV001170618 RCV000766926 CA021554 RCV000233460 rs727503506 RCV002345478 |
124 | E>Q | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1599909309 CA407440819 RCV000807998 |
125 | I>F | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10583863 rs878853956 RCV000227202 |
125 | I>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000490996 rs1114167340 CA407440799 |
127 | D>Y | Cardiomyopathy, familial restrictive, 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA407440757 rs1390435424 RCV000774336 |
130 | Q>R | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA407440748 RCV000810064 rs1599909289 |
131 | K>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001043466 rs1315063739 RCV000788863 |
131 | K>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000629008 RCV002377343 CA407440686 rs1555863549 |
135 | L>F | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1568858210 RCV000701643 CA407440682 |
135 | L>P | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA407440677 rs1393946566 RCV000578828 RCV002325114 RCV001295096 |
136 | R>* | Variant assessed as Somatic; impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000769526 CA021615 RCV000159213 RCV001781500 RCV002321670 RCV000167999 rs730881069 |
136 | R>Q | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002327433 rs730881071 RCV002555493 RCV001178726 |
141 | R>G | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000465349 RCV002051801 RCV000777481 rs397516347 RCV002326734 VAR_019872 RCV002477081 CA021635 RCV000159220 |
141 | R>Q | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 7 Dilated cardiomyopathy 2A CMH7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000159219 RCV002326910 RCV003152687 RCV001798537 RCV000473123 rs730881071 CA021627 |
141 | R>W | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 7 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001192353 CA021641 RCV000628944 rs397516348 RCV002054586 RCV000159221 RCV000036291 |
143 | T>N | Cardiomyopathy Hypertrophic cardiomyopathy Left ventricular noncompaction cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs121917760 CA021654 RCV000036292 |
144 | L>P | Hypertrophic cardiomyopathy Cardiomyopathy, familial restrictive, 1 (rcm1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000013241 rs121917760 CA021648 VAR_016079 |
144 | L>Q | Cardiomyopathy, familial restrictive, 1 Cardiomyopathy, familial restrictive, 1 (rcm1) RCM1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA021660 RCV000251781 RCV000013231 RCV000557688 RCV001798003 VAR_007603 RCV000441050 rs104894724 |
145 | R>G | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 7 Cardiomyopathy, familial restrictive, 1 (rcm1) CMH7 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs397516349 RCV001338929 |
145 | R>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000621089 RCV001807758 RCV000159223 CA021673 RCV000763057 RCV001178632 RCV000208273 RCV000200141 rs397516349 |
145 | R>Q | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 7 Dilated cardiomyopathy 2A [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001236831 rs2085712282 |
145 | R>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_016080 RCV001787387 RCV000013239 COSM475295 RCV000498333 RCV000159222 RCV001254730 CA021667 RCV001170617 rs104894724 |
145 | R>W | kidney Cardiomyopathy, familial restrictive, 1 Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Restrictive cardiomyopathy Hypertrophic cardiomyopathy SUDDEN INFANT DEATH SYNDROME Cardiomyopathy, familial restrictive, 1 (rcm1) RCM1 [Cosmic, ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2085712265 RCV001256923 |
146 | R>S | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001089613 rs2085712229 |
147 | V>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001850386 CA021681 RCV001180805 rs777782551 RCV002492686 |
147 | V>L | Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 2A [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs730881072 CA021690 RCV000551025 RCV002336370 RCV000159224 |
151 | A>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730881073 RCV001180888 TCGA novel RCV002560808 |
153 | A>V | Cardiomyopathy Variant assessed as Somatic; impact. Hypertrophic cardiomyopathy [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs397516352 RCV000036298 CA021714 |
155 | M>T | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001134898 rs2085712011 RCV001134899 RCV001134900 RCV001134897 |
156 | Q>E | Cardiomyopathy, familial restrictive, 1 Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Hypertrophic cardiomyopathy 7 Dilated cardiomyopathy 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397516353 RCV001170616 CA021720 RCV002336121 RCV001174966 RCV000465603 RCV000159227 RCV000578464 VAR_019873 |
157 | A>V | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 7 CMH7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001061078 rs2085711894 |
160 | G>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1568858158 RCV001323755 |
161 | A>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000786224 RCV001188384 RCV000535232 rs753413305 CA051664 RCV002341249 |
161 | A>V | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs1555863489 RCV000551389 |
162 | R>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA407440359 RCV000770566 rs397516354 |
162 | R>L | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA021749 rs397516354 VAR_019874 RCV000629031 RCV002250504 RCV003162313 |
162 | R>P | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 7 CMH7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000850015 RCV001807759 rs397516354 RCV001170614 RCV000159229 RCV000208428 RCV000477941 VAR_042745 RCV000197981 CA021744 RCV000620118 |
162 | R>Q | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 7 Dilated cardiomyopathy 1FF Dilated cardiomyopathy 2A CMH7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs368861241 RCV000709765 CA021738 RCV000159228 RCV000148896 RCV002498682 RCV000475238 RCV001170615 RCV000722122 |
162 | R>W | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 7 Dilated cardiomyopathy 2A [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000822162 rs1599909151 |
163 | A>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA021757 RCV001348309 RCV000154504 RCV001541094 rs727504367 |
163 | A>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16608300 RCV000422803 rs1057521530 RCV001055929 |
165 | E>* | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA407440338 RCV000695010 rs1057521530 |
165 | E>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001798495 RCV000709766 CA021763 RCV002336315 VAR_029454 rs727504242 RCV000159230 RCV000628993 |
166 | S>F | Cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 7 CMH7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001254749 rs1599909123 |
166 | S>P | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001254762 RCV001182342 CA407440318 rs1391407750 |
167 | L>P | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1085308019 RCV000818738 CA407440315 |
168 | D>H | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000197009 RCV000152077 RCV001850072 rs727503504 CA021769 |
170 | R>G | Cardiomyopathy, familial restrictive, 1 Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000159232 CA021784 rs727503503 RCV000152076 RCV000540068 |
170 | R>Q | Restrictive cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA021778 RCV000159231 RCV001254049 RCV000456293 RCV000157530 rs727503504 |
170 | R>W | Cardiomyopathy, familial restrictive, 1 Hypertrophic cardiomyopathy Restrictive cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001804728 rs121917761 CA021791 RCV000013242 RCV000817897 VAR_016081 |
171 | A>T | Cardiomyopathy, familial restrictive, 1 Hypertrophic cardiomyopathy Cardiomyopathy, familial restrictive, 1 (rcm1) RCM1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000555081 rs1555863491 CA407440297 |
171 | A>V | Variant assessed as Somatic; impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA407440296 RCV001200424 RCV000528835 rs730881075 |
172 | H>Y | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000157531 COSM1001402 rs730880231 CA021810 |
174 | K>N | endometrium Restrictive cardiomyopathy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV000628887 rs1555863480 CA407440281 |
174 | K>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000157532 RCV001036762 RCV000152074 CA021822 rs727503501 |
176 | V>M | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_019875 | 177 | K>del | CMH7 [UniProt] | Yes | UniProt |
|
rs2085711157 RCV001772244 RCV001044658 |
178 | K>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000700121 rs397516351 RCV003114214 RCV001781349 |
178 | K>missing | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001331172 RCV000013238 CA021835 VAR_016082 rs104894730 |
178 | K>E | Cardiomyopathy, familial restrictive, 1 Hypertrophic cardiomyopathy 7 Cardiomyopathy, familial restrictive, 1 (rcm1) RCM1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001528409 rs1060499912 RCV000454790 RCV000621120 CA16609776 RCV000628888 |
180 | D>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000472513 rs1060503103 RCV002348329 RCV001254755 CA16616429 |
180 | D>N | Hypertrophic cardiomyopathy Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002513378 RCV001170613 RCV000159235 RCV002468559 RCV000036303 CA021848 rs397516355 |
182 | E>K | Cardiomyopathy Hypertrophic cardiomyopathy Primary dilated cardiomyopathy Dilated cardiomyopathy 1FF [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000036305 CA021885 rs397516356 |
184 | E>K | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001204806 rs397516356 |
184 | E>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA021902 VAR_063549 rs267607129 RCV000013244 |
185 | N>K | Dilated cardiomyopathy 1FF CMD1FF [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000223924 RCV000770565 RCV001258033 CA021907 rs397516357 RCV000167988 RCV000620207 VAR_019876 RCV000157533 |
186 | R>Q | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 7 CMH7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001788314 CA051839 RCV000658349 RCV001855374 RCV001177934 COSM1001401 rs760978512 |
186 | R>W | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy endometrium Hypertrophic cardiomyopathy SUDDEN INFANT DEATH SYNDROME [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000539276 CA051855 rs773184959 |
187 | E>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA021916 RCV001850161 rs727505069 RCV000156506 |
187 | E>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2085697279 RCV001326024 |
187 | E>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2085697125 RCV001301660 |
188 | V>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000159240 CA021922 rs193922409 RCV002513269 RCV000625703 |
188 | V>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782980 RCV000143957 CA021932 |
189 | G>E | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000013235 RCV000013236 rs104894728 CA021945 |
190 | D>G | Cardiomyopathy, familial restrictive, 1 Hypertrophic cardiomyopathy 7 Cardiomyopathy, familial restrictive, 1 (rcm1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_016083 | 190 | D>H | CMH7 and RCM1 [UniProt] | Yes | UniProt |
|
CA021939 rs727503500 RCV000152073 |
190 | D>Y | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs727503499 RCV000152072 RCV001066777 COSM1001399 CA021951 RCV001092522 |
192 | R>C | Variant assessed as Somatic; impact. endometrium Restrictive cardiomyopathy Hypertrophic cardiomyopathy [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000013237 RCV003147282 RCV000154212 CA021957 RCV000852483 RCV000629012 RCV000159242 RCV000157534 RCV000619328 rs104894729 VAR_016084 |
192 | R>H | Cardiomyopathy, familial restrictive, 1 Primary familial hypertrophic cardiomyopathy Variant assessed as Somatic; impact. Hypertrophic cardiomyopathy Restrictive cardiomyopathy SUDDEN INFANT DEATH SYNDROME Cardiomyopathy, familial restrictive, 1 (rcm1) RCM1 [ClinVar, NCI-TCGA, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000154466 rs104894729 CA021971 |
192 | R>L | Hypertrophic cardiomyopathy Cardiomyopathy, familial restrictive, 1 (rcm1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs104894729 RCV000156328 CA021964 |
192 | R>P | Hypertrophic cardiomyopathy Cardiomyopathy, familial restrictive, 1 (rcm1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002354394 RCV000159243 RCV001296186 CA021977 rs730881080 |
193 | K>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000036307 RCV000234031 CA021983 rs397516358 CA021989 RCV000159244 |
193 | K>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA051878 RCV000620710 RCV001187551 RCV000803326 rs730881081 |
194 | N>T | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200085986 RCV001069539 |
195 | I>M | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000461416 RCV000148897 CA022006 RCV000159246 RCV000013234 rs104894727 RCV000777480 RCV002354157 RCV002496340 VAR_016085 |
196 | D>N | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 7 Dilated cardiomyopathy 2A CMH7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001850152 RCV000770564 rs104894727 RCV000156282 CA022012 |
196 | D>Y | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000628864 RCV000518842 RCV000154294 RCV002354364 RCV000623545 CA022019 rs727504285 |
198 | L>V | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2085696801 RCV001317731 RCV002357137 |
199 | S>C | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201449 RCV001239093 RCV002354396 CA022024 rs730881091 RCV000225742 |
199 | S>N | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs878853957 RCV000229066 CA10583862 |
200 | G>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16616444 rs878853957 RCV000459710 |
200 | G>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs727504365 CA022037 RCV000154501 |
201 | M>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA022043 RCV000013245 rs267607127 |
203 | G>S | Hypertrophic cardiomyopathy 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA022054 RCV002470778 RCV000154213 RCV000531443 RCV000159248 rs727504243 |
204 | R>C | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002354362 RCV001254739 CA022060 RCV000159249 VAR_042746 RCV000469008 rs727504275 |
204 | R>H | Variant assessed as Somatic; impact. Restrictive cardiomyopathy Hypertrophic cardiomyopathy CMH7 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000554035 rs727504243 CA407439464 |
204 | R>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA022072 rs104894725 RCV000013232 VAR_007604 |
206 | K>Q | Hypertrophic cardiomyopathy 7 CMH7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2085696421 RCV001225764 |
207 | K>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs367672692 RCV002480712 RCV001216456 CA310144831 |
207 | K>R | Hypertrophic cardiomyopathy Dilated cardiomyopathy 2A [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000788974 rs1599907512 RCV000853173 |
209 | E>* | Familial restrictive cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730881083 RCV002354395 CA022103 RCV000505779 RCV000809873 |
209 | E>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA407439393 rs1555862947 RCV000656485 |
209 | E>D | Cardiomyopathy, familial restrictive, 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001049450 CA022097 COSM3835802 RCV000154256 RCV000766927 rs727504268 |
209 | E>K | Variant assessed as Somatic; impact. Hypertrophic cardiomyopathy breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs730881084 RCV000159254 RCV002515086 CA022109 RCV001195633 |
211 | S>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| TCGA novel | 2 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 3 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407443510 rs1327794718 |
4 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 4 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1201960520 RCV000521742 CA407443378 |
7 | D>H | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1201960520 CA407443379 |
7 | D>N | No |
ClinGen gnomAD |
|
|
rs770640091 CA050736 |
8 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs771967539 CA050955 |
9 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA407443245 rs1379665147 |
11 | E>K | No |
ClinGen gnomAD |
|
|
CA051301 rs553214254 |
12 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA407443128 rs779416591 |
18 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755862334 CA407443121 |
19 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778133452 CA051875 |
19 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs894238478 CA310150423 |
19 | I>N | No |
ClinGen Ensembl |
|
| TCGA novel | 28 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1194177269 CA407442955 |
28 | A>V | No |
ClinGen gnomAD |
|
|
RCV000152092 rs727503510 CA022127 |
29 | Y>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs867738263 CA310150377 |
30 | A>V | No |
ClinGen Ensembl |
|
|
CA407442921 rs1298916040 |
31 | T>P | No |
ClinGen gnomAD |
|
|
rs1325580070 CA407442905 |
32 | E>Q | No |
ClinGen gnomAD |
|
|
CA407442880 rs1379608043 |
33 | P>S | No |
ClinGen gnomAD |
|
|
CA049916 rs759949951 |
34 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1408482066 CA407442842 |
35 | A>T | No |
ClinGen gnomAD |
|
|
rs886039441 CA10588688 RCV000255623 |
36 | K>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA407442488 rs1568859416 |
39 | S>P | No |
ClinGen Ensembl |
|
|
rs727505023 RCV000156448 CA021272 |
43 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA407442360 rs1384960650 |
48 | Q>* | No |
ClinGen gnomAD |
|
|
rs866918068 CA310150110 |
48 | Q>H | No |
ClinGen Ensembl |
|
|
rs200720341 CA310150113 |
48 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1397663689 CA407442355 |
49 | L>Q | No |
ClinGen gnomAD |
|
|
rs1445843881 CA407442356 |
49 | L>V | No |
ClinGen gnomAD |
|
|
CA050532 rs762589736 |
53 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA050523 rs763981651 |
53 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA050564 rs765219322 |
56 | I>V | No |
ClinGen ExAC |
|
|
rs1300290294 CA407442004 |
57 | A>G | No |
ClinGen TOPMed |
|
|
CA407441954 rs1487255292 |
60 | E>D | No |
ClinGen gnomAD |
|
|
rs776162352 CA050584 |
60 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA407441936 rs1357844466 |
62 | E>* | No |
ClinGen TOPMed |
|
|
CA407441923 rs1286340820 |
63 | R>* | No |
ClinGen gnomAD |
|
|
rs1205435733 CA407441922 |
63 | R>Q | No |
ClinGen gnomAD |
|
|
rs1245885836 CA407441912 |
64 | E>Q | No |
ClinGen TOPMed |
|
|
CA310149885 rs1047163086 |
66 | E>G | No |
ClinGen Ensembl |
|
|
rs1253836774 CA407441887 |
66 | E>K | No |
ClinGen gnomAD |
|
|
rs760401006 CA050624 |
67 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1325191263 CA407441857 |
68 | R>P | No |
ClinGen gnomAD |
|
|
CA407441793 rs375795196 |
74 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA050681 rs375795196 |
74 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA407441788 rs1187997222 |
75 | A>T | No |
ClinGen TOPMed |
|
|
rs1599911098 CA407441781 RCV000788394 |
75 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA407441773 rs1443859469 |
76 | L>R | No |
ClinGen TOPMed |
|
|
rs786204399 CA407441756 |
78 | T>A | No |
ClinGen TOPMed |
|
|
rs786205288 CA10577116 RCV000222876 |
78 | T>I | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
RCV000172135 rs786205288 CA021389 |
78 | T>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs786204399 CA021381 RCV003183409 |
78 | T>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs777801855 CA050720 |
80 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA407441725 rs752503819 |
82 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10587920 RCV000252975 rs759523214 |
84 | E>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs759523214 CA050824 |
84 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867749209 CA310149754 |
86 | A>V | No |
ClinGen Ensembl |
|
|
CA407441699 rs1276684253 |
87 | G>W | No |
ClinGen Ensembl |
|
|
CA050940 rs760033874 |
88 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA050965 rs771678310 |
91 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407441662 rs776035548 |
93 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001193549 rs1599909725 |
96 | L>F | No |
ClinVar dbSNP |
|
|
rs730881068 CA051111 |
98 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA407441163 rs1225405918 |
100 | L>P | No |
ClinGen gnomAD |
|
|
CA407441172 rs773216333 |
100 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs730881087 RCV000159258 RCV000223790 CA021470 |
101 | H>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1336537568 COSM568109 CA407441155 |
101 | H>Y | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA407441131 rs1329760318 |
102 | A>V | No |
ClinGen TOPMed |
|
|
CA407441099 rs1229714583 |
106 | K>E | No |
ClinGen gnomAD |
|
|
CA407441092 rs1454387996 |
106 | K>M | No |
ClinGen Ensembl |
|
|
rs796263259 CA310148839 |
107 | V>M | No |
ClinGen Ensembl |
|
|
CA633871225 rs1568858517 |
112 | Y>* | No |
ClinGen Ensembl |
|
|
CA407441027 rs559450042 |
112 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA310148827 rs779064799 |
113 | D>N | No |
ClinGen Ensembl |
|
|
rs1599909635 CA407441004 |
114 | I>M | No |
ClinGen Ensembl |
|
|
CA051282 rs762692450 |
114 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000788332 CA407440909 rs727503506 |
124 | E>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1384750266 CA407440797 |
127 | D>G | No |
ClinGen gnomAD |
|
|
rs1599909285 CA407440714 |
133 | F>Y | No |
ClinGen Ensembl |
|
|
RCV000152084 rs727503505 CA021608 |
134 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA407440617 rs1462112345 |
139 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA407440565 rs1308181541 |
143 | T>A | No |
ClinGen TOPMed |
|
|
rs730881073 RCV000159225 CA021698 |
153 | A>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA021703 RCV000036296 rs397516350 |
154 | M>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000159226 CA021709 rs730881074 |
155 | M>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1599909172 CA407440369 |
161 | A>T | No |
ClinGen Ensembl |
|
|
rs727504367 RCV000658858 CA407440352 |
163 | A>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA310148369 rs546367368 |
164 | K>T | No |
ClinGen Ensembl |
|
|
rs1599909123 CA407440327 |
166 | S>A | No |
ClinGen Ensembl |
|
|
rs1344349140 CA407440310 |
168 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV000489372 CA407440316 rs1085308019 RCV002350090 |
168 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA021797 rs730881075 RCV000159233 |
172 | H>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA021804 rs730881076 RCV000159234 |
174 | K>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000248954 rs876661394 CA10581187 RCV000223834 |
175 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA021816 RCV000152075 rs727503502 |
175 | Q>H | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs876658023 RCV000216567 |
180 | D>missing | No |
ClinVar dbSNP |
|
|
rs765207816 CA051716 |
181 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA407440203 rs397516355 |
182 | E>* | No |
ClinGen gnomAD |
|
|
RCV000159236 rs730881077 CA021854 |
183 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs730881078 CA021859 RCV000159237 |
183 | K>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs730881079 RCV000159238 CA021896 |
185 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA021890 rs730881089 RCV000159260 |
185 | N>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA407439660 rs1599907619 |
188 | V>G | No |
ClinGen Ensembl |
|
|
CA021928 RCV000159241 rs193922409 |
188 | V>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA407439634 RCV000494218 rs1131691856 |
190 | D>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA310144922 rs796550160 |
191 | W>* | No |
ClinGen Ensembl |
|
|
RCV000159261 rs730881090 CA022000 |
194 | N>K | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA021995 RCV000159245 rs730881081 |
194 | N>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs876658024 CA10577114 RCV000221029 RCV001731528 |
195 | I>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA051926 rs774968223 |
201 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 202 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA407439485 rs1470970097 |
202 | E>Q | No |
ClinGen gnomAD |
|
|
CA051933 rs727504275 |
204 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 205 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA022066 RCV000156880 rs727505331 |
205 | K>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1555862962 RCV003151796 CA407439454 RCV000618853 |
205 | K>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000159250 rs104894725 CA022079 |
206 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs730881082 RCV000159251 CA022085 |
206 | K>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs876658025 RCV000222643 CA10577113 |
208 | F>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10577112 rs876658026 RCV000216343 |
208 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs730881083 CA407439399 |
209 | E>G | No |
ClinGen gnomAD |
|
|
CA407439388 rs1599907495 |
210 | S>G | No |
ClinGen Ensembl |
|
|
rs1240826681 CA407439376 |
210 | S>N | No |
ClinGen gnomAD |
4 associated diseases with P19429
[MIM: 613690]: Cardiomyopathy, familial hypertrophic 7 (CMH7)
A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:11815426, ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:12974739, ECO:0000269|PubMed:16199542, ECO:0000269|PubMed:9241277}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 115210]: Cardiomyopathy, familial restrictive 1 (RCM1)
A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. {ECO:0000269|PubMed:12531876}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 611880]: Cardiomyopathy, dilated 2A (CMD2A)
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:19590045, ECO:0000269|PubMed:21846512}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613286]: Cardiomyopathy, dilated 1FF (CMD1FF)
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:19590045, ECO:0000269|PubMed:21846512}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:11815426, ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:12974739, ECO:0000269|PubMed:16199542, ECO:0000269|PubMed:9241277}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. {ECO:0000269|PubMed:12531876}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:19590045, ECO:0000269|PubMed:21846512}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:19590045, ECO:0000269|PubMed:21846512}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for P19429
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P19429 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cardiac myofibril | A cardiac myofibril is a myofibril specific to cardiac muscle cells. |
| cardiac Troponin complex | A complex of accessory proteins (cardiac troponin T, cardiac troponin I and cardiac troponin C) found associated with actin in cardiac muscle thin filaments; involved in calcium regulation important for muscle contraction. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| sarcomere | The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. |
| troponin complex | A complex of accessory proteins (typically troponin T, troponin I and troponin C) found associated with actin in muscle thin filaments; involved in calcium regulation of muscle contraction. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| calcium channel inhibitor activity | Binds to and stops, prevents, or reduces the activity of a calcium channel. |
| calcium-dependent protein binding | Binding to a protein or protein complex in the presence of calcium. |
| metal ion binding | Binding to a metal ion. |
| molecular function inhibitor activity | A molecular function regulator that inhibits or decreases the activity of its target via non-covalent binding that does not result in covalent modification to the target. |
| protein domain specific binding | Binding to a specific domain of a protein. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| troponin C binding | Binding to troponin C, the calcium-binding subunit of the troponin complex. |
| troponin T binding | Binding to troponin T, the tropomyosin-binding subunit of the troponin complex. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| cardiac muscle contraction | Muscle contraction of cardiac muscle tissue. |
| cellular calcium ion homeostasis | Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell. |
| heart contraction | The multicellular organismal process in which the heart decreases in volume in a characteristic way to propel blood through the body. |
| heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| muscle contraction | A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
| negative regulation of ATP-dependent activity | Any process that stops or reduces the rate of an ATP-dependent activity. |
| regulation of cardiac muscle contraction by calcium ion signaling | Any process that modulates the frequency, rate or extent of cardiac muscle contraction by changing the calcium ion signals that trigger contraction. |
| regulation of smooth muscle contraction | Any process that modulates the frequency, rate or extent of smooth muscle contraction. |
| regulation of systemic arterial blood pressure by ischemic conditions | The process that modulates blood pressure by the detection of carbon dioxide levels in the brain stem. Increased levels activate the sympathetic vasoconstrictor mechanism increasing the force with which blood flows through the circulatory system. |
| skeletal muscle contraction | A process in which force is generated within skeletal muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. In the skeletal muscle, the muscle contraction takes advantage of an ordered sarcomeric structure and in most cases it is under voluntary control. |
| vasculogenesis | The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes. |
| ventricular cardiac muscle tissue morphogenesis | The process in which the anatomical structures of cardiac ventricle muscle is generated and organized. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADGSSDAAR | EPRPAPAPIR | RRSSNYRAYA | TEPHAKKKSK | ISASRKLQLK | TLLLQIAKQE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LEREAEERRG | EKGRALSTRC | QPLELAGLGF | AELQDLCRQL | HARVDKVDEE | RYDIEAKVTK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NITEIADLTQ | KIFDLRGKFK | RPTLRRVRIS | ADAMMQALLG | ARAKESLDLR | AHLKQVKKED |
| 190 | 200 | ||||
| TEKENREVGD | WRKNIDALSG | MEGRKKKFES |