Q9NPC6
PR
Gene name |
MYOZ2 |
Protein name |
Myozenin-2 |
Names |
Calsarcin-1, FATZ-related protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51778 |
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
1 structures for Q9NPC6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NPC6-F1 | Predicted | AlphaFoldDB |
225 variants for Q9NPC6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001070182 RCV001170131 CA137037 rs397517289 RCV000039003 RCV002408523 |
6 | T>S | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001345814 CA3058520 RCV002419022 RCV002499691 rs746027670 |
7 | M>V | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 16 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000172571 RCV000358872 CA238413 RCV000242166 rs76757102 RCV001170132 RCV000625132 RCV000039005 RCV000852985 |
10 | Q>P | Cardiomyopathy Hypertrophic cardiomyopathy 16 Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000768522 CA137040 RCV002496623 RCV000621201 rs76757102 RCV000770196 RCV000039006 |
10 | Q>R | Cardiomyopathy Hypertrophic cardiomyopathy 16 Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_065469 RCV000024476 rs199476398 CA129291 RCV000023465 |
48 | S>P | Hypertrophic cardiomyopathy 16 CMH16 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA3058550 RCV001170133 RCV002395187 rs148908208 RCV000545242 RCV000490177 |
49 | H>R | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1578729969 RCV001066039 |
52 | N>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000555535 RCV000786377 CA3058554 rs751671131 |
53 | R>H | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000197510 COSM269678 CA321978 rs755233280 RCV002478685 RCV002408871 RCV002517183 |
61 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 16 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA3058555 RCV000620911 rs755233280 RCV000529439 |
61 | R>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001225964 rs748259386 CA3058556 COSM3409028 |
61 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system Hypertrophic cardiomyopathy [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1741439343 RCV001237993 |
81 | I>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000214117 RCV001170134 CA3058566 RCV000831515 rs149125238 RCV001084581 RCV002453763 |
82 | N>T | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs764229797 RCV002438280 RCV000544308 CA3058588 |
92 | V>A | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000199353 rs779446731 CA323884 RCV001853160 |
98 | E>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002485100 RCV001798610 rs138061447 RCV001852093 RCV002433748 CA237424 RCV000172063 |
101 | S>* | Cardiomyopathy Hypertrophic cardiomyopathy 16 Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001494254 RCV000213377 CA3058595 rs772659939 RCV002321842 |
104 | A>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3058596 RCV001485080 rs748809573 |
105 | P>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002496790 RCV000465076 RCV002451145 rs374655743 COSM1426574 CA3058600 RCV000786376 |
115 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 16 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001038417 rs1741625308 |
120 | P>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA104971827 rs890598036 RCV001238834 |
130 | P>L | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001170135 CA3058637 rs141181373 |
147 | Y>H | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP |
|
rs200077093 RCV000039008 RCV001339474 CA237430 RCV000172065 RCV002490531 |
149 | Q>H | Hypertrophic cardiomyopathy 16 Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs200791464 RCV000623809 CA321364 RCV000625133 RCV000196942 RCV002336531 RCV000458464 |
160 | P>L | Primary familial hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 16 Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000039010 CA282614 RCV000852986 RCV001719756 RCV001798126 rs143345726 RCV000459249 RCV000515178 RCV000246679 |
163 | L>S | Cardiomyopathy Hypertrophic cardiomyopathy 16 Restrictive cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1227160156 RCV001037228 CA358204331 RCV002337096 |
166 | L>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001061554 rs1741776648 |
167 | Y>missing | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000811497 CA358204358 rs1578738559 |
170 | L>F | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001211643 rs147532351 CA3058657 |
175 | G>R | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001065784 rs1741778219 |
183 | R>G | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1578374252 RCV000796939 CA358201400 |
194 | G>D | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002355131 RCV001170136 CA3058684 rs554299359 RCV001295089 |
195 | F>I | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001170137 rs1742285153 |
198 | A>missing | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001209259 rs1218433680 |
218 | R>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA358202072 rs1578374324 RCV000853157 |
220 | M>T | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs201971682 CA237433 RCV000172066 RCV002505239 |
222 | F>L | Hypertrophic cardiomyopathy 16 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002478550 RCV002372076 RCV000172067 CA237436 RCV000537605 rs200428820 |
225 | P>L | Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 16 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000151525 RCV000794174 CA177399 rs727503332 |
230 | R>Q | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002362814 CA295694 RCV000154787 RCV001499991 rs372215131 RCV000766492 RCV001170138 |
230 | R>W | Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs796785947 CA10616996 RCV001699998 RCV000604489 |
238 | G>R | Hypertrophic cardiomyopathy 16 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002376887 CA16618028 RCV002525953 RCV000479639 rs1064796685 |
240 | I>V | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000023466 RCV000024477 RCV000330572 CA129293 rs140126678 RCV000039013 VAR_065470 |
246 | I>M | Hypertrophic cardiomyopathy 16 Hypertrophic cardiomyopathy CMH16 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1050439 CA3058700 RCV000544548 RCV001508510 RCV003159720 RCV002481747 rs762234986 |
249 | T>A | endometrium Hypertrophic cardiomyopathy 16 Hypertrophic cardiomyopathy [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs774131437 RCV001868136 RCV000619125 CA3058702 |
250 | T>I | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1742290113 RCV001338801 |
254 | D>N | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA334154 RCV000168019 rs760620614 |
258 | V>E | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA358203191 rs1357815898 |
3 | S>P | No |
ClinGen gnomAD |
|
|
CA3058518 rs376901669 |
4 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358203201 rs376901669 |
4 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3058519 rs757032457 |
6 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs397517289 CA358203215 |
6 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs974668391 CA104969012 |
7 | M>T | No |
ClinGen gnomAD |
|
|
CA358203229 rs1485580734 |
8 | M>I | No |
ClinGen gnomAD |
|
|
rs765333692 CA104969014 |
9 | K>N | No |
ClinGen gnomAD |
|
|
rs775592981 CA104969015 |
12 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3058523 rs145688699 |
13 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1578720516 CA358203266 |
13 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 14 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1408647865 CA358203288 |
16 | T>I | No |
ClinGen gnomAD |
|
|
CA3058526 rs762436118 |
18 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA3058525 rs762436118 |
18 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1156829963 CA358203295 |
18 | I>V | No |
ClinGen gnomAD |
|
|
rs1409885273 CA358203308 |
19 | M>I | No |
ClinGen TOPMed |
|
|
rs1419515136 CA358203304 |
19 | M>T | No |
ClinGen TOPMed |
|
|
rs866977017 CA104969016 |
21 | E>K | No |
ClinGen Ensembl |
|
|
CA358203338 rs1434772471 |
24 | G>R | No |
ClinGen gnomAD |
|
|
CA104970492 rs879728261 |
27 | V>A | No |
ClinGen Ensembl |
|
|
CA358203382 rs1345808429 |
27 | V>I | No |
ClinGen gnomAD |
|
|
CA358203391 rs1233915183 |
28 | D>G | No |
ClinGen gnomAD |
|
|
CA358203400 rs1309077303 |
29 | G>V | No |
ClinGen gnomAD |
|
|
rs1373684823 CA358203407 |
30 | M>I | No |
ClinGen TOPMed |
|
|
CA358203402 rs1561110024 |
30 | M>V | No |
ClinGen Ensembl |
|
|
rs199750309 CA3058545 |
31 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1232253185 CA358203425 |
33 | G>D | No |
ClinGen gnomAD |
|
|
CA358203430 rs1194966053 |
34 | K>* | No |
ClinGen gnomAD |
|
|
CA358203432 rs1245993988 |
34 | K>T | No |
ClinGen gnomAD |
|
|
rs763449906 CA3058547 |
36 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 40 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358203472 rs1453257683 |
40 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 42 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1421167002 CA358203495 |
43 | M>T | No |
ClinGen gnomAD |
|
|
rs1578729917 CA358203501 |
44 | L>M | No |
ClinGen Ensembl |
|
|
CA3058549 rs562518581 |
45 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA358203543 rs1015335570 |
50 | L>F | No |
ClinGen gnomAD |
|
|
CA104970493 rs1015335570 |
50 | L>I | No |
ClinGen gnomAD |
|
|
rs1578729964 CA358203548 |
51 | S>G | No |
ClinGen Ensembl |
|
|
rs758181218 CA3058552 |
53 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758181218 RCV000418819 CA3058553 |
53 | R>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 55 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358203602 rs1435807274 |
59 | K>R | No |
ClinGen gnomAD |
|
|
CA3058557 rs770041235 |
62 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
RCV000600393 rs1553958177 CA358203634 |
64 | R>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs749869990 CA3058558 |
66 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA358203656 rs1215550950 |
67 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA358203655 rs1215550950 |
67 | K>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 72 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA324863 rs863223715 RCV000200309 |
74 | Q>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA3058562 rs768381091 |
74 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA3058561 rs531506148 |
74 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3058564 rs761283496 |
76 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1235352669 CA358203739 |
79 | A>T | No |
ClinGen TOPMed |
|
|
rs1475725989 CA358203745 |
80 | Q>K | No |
ClinGen gnomAD |
|
|
rs962911190 CA104970495 |
81 | I>V | No |
ClinGen TOPMed |
|
|
rs149125238 CA3058567 |
82 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1297866782 CA358203783 |
83 | H>P | No |
ClinGen gnomAD |
|
|
rs759342600 CA3058584 |
85 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 85 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3058585 rs767478816 |
86 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3058586 rs752911899 |
88 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA104971224 rs1035375546 |
90 | G>R | No |
ClinGen Ensembl |
|
|
CA3058587 rs756409793 |
91 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1239752760 CA358203841 |
92 | V>M | No |
ClinGen gnomAD |
|
|
CA358203852 rs1238737536 |
93 | D>E | No |
ClinGen gnomAD |
|
|
CA3058589 rs753997345 |
93 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358203885 rs1213468971 |
98 | E>V | No |
ClinGen gnomAD |
|
|
CA3058591 rs138061447 |
101 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769463929 CA3058594 |
104 | A>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000199715 CA324264 rs863223717 |
105 | P>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 105 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 108 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs546999011 CA104971226 |
109 | P>R | No |
ClinGen 1000Genomes |
|
|
rs1158075899 CA358203955 |
110 | N>Y | No |
ClinGen gnomAD |
|
|
rs1302125658 CA358203964 |
111 | T>I | No |
ClinGen TOPMed |
|
|
CA358203971 rs1436747344 |
112 | P>R | No |
ClinGen gnomAD |
|
|
RCV000437722 CA3058601 rs775457082 |
115 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1336546013 CA358203995 |
116 | S>T | No |
ClinGen gnomAD |
|
|
rs754050093 RCV000172064 CA237427 |
121 | D>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA358204028 rs1311299735 |
121 | D>G | No |
ClinGen TOPMed |
|
|
CA358204051 rs1349408042 |
124 | A>V | No |
ClinGen gnomAD |
|
|
CA358204080 rs1421281266 |
127 | Y>C | No |
ClinGen gnomAD |
|
|
CA104971826 rs1051918078 |
128 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs755330029 CA3058627 |
129 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3058628 rs781466292 |
131 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA104971828 rs868611205 |
133 | E>K | No |
ClinGen TOPMed |
|
|
CA3058629 rs753465140 |
134 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA3058631 rs144720577 |
135 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3058630 rs144720577 |
135 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA358204146 rs1578738404 |
138 | K>R | No |
ClinGen Ensembl |
|
|
RCV000998285 CA358204150 rs1578738408 |
139 | F>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA358204156 rs1383629980 |
139 | F>L | No |
ClinGen gnomAD |
|
|
CA358204154 rs1251745987 |
139 | F>S | No |
ClinGen TOPMed |
|
|
CA358204162 rs745351307 |
140 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745351307 CA3058632 |
140 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3058634 rs771752923 |
141 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3058633 rs771752923 |
141 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 143 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768510650 CA3058636 |
143 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482747392 CA358204187 |
145 | P>S | No |
ClinGen TOPMed |
|
|
CA358204212 rs1242702252 |
148 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1177633678 CA358204216 |
149 | Q>E | No |
ClinGen gnomAD |
|
|
rs1037156542 CA104971829 |
150 | S>P | No |
ClinGen Ensembl |
|
|
CA358204229 rs1207173141 |
151 | P>S | No |
ClinGen gnomAD |
|
|
CA3058642 rs752046923 |
152 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs760042467 CA3058644 |
153 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA3058643 rs760042467 |
153 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA358204244 rs1188334399 |
153 | E>V | No |
ClinGen gnomAD |
|
|
rs200151576 CA3058645 |
154 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA358204251 rs1236881000 |
154 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs137878426 CA358204258 |
155 | A>G | No |
ClinGen ESP ExAC TOPMed |
|
|
rs137878426 CA3058646 |
155 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 157 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363936227 CA358204289 |
159 | D>E | No |
ClinGen gnomAD |
|
|
CA358204294 rs200791464 |
160 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 161 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780989346 CA3058650 |
164 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1313794639 CA358204323 |
165 | A>P | No |
ClinGen gnomAD |
|
|
CA3058653 rs780300735 |
167 | Y>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 169 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773300329 CA3058655 |
170 | L>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 173 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 173 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358204393 rs1211340796 |
175 | G>E | No |
ClinGen gnomAD |
|
|
rs774445821 CA3058658 |
176 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 180 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA104971830 rs969936455 |
180 | P>S | No |
ClinGen TOPMed |
|
|
CA3058661 rs776107985 |
182 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1420374400 CA358204447 |
183 | R>S | No |
ClinGen gnomAD |
|
|
rs775850657 CA3058683 |
189 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 193 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3058685 rs554299359 |
195 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs866487129 CA104974203 |
198 | A>E | No |
ClinGen Ensembl |
|
| TCGA novel | 198 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358201447 rs1175731703 |
198 | A>T | No |
ClinGen gnomAD |
|
|
CA3058686 rs777163109 |
199 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1578374276 CA358201469 |
200 | R>K | No |
ClinGen Ensembl |
|
|
CA358201493 rs1249313635 |
201 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA104974204 rs981101609 |
208 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 210 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3058688 rs766105838 |
210 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1578374302 CA358201626 |
211 | L>R | No |
ClinGen Ensembl |
|
|
CA358202021 rs1441693670 |
216 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 216 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA104974205 rs901639643 |
217 | P>R | No |
ClinGen TOPMed |
|
|
RCV000217689 rs751294999 CA3058689 |
217 | P>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA358202042 rs1365683005 |
218 | R>K | No |
ClinGen gnomAD |
|
|
rs1032024042 CA104974206 |
219 | F>V | No |
ClinGen Ensembl |
|
|
CA358202064 rs1578374323 |
220 | M>L | No |
ClinGen Ensembl |
|
|
rs1578374328 CA358202085 |
221 | S>A | No |
ClinGen Ensembl |
|
|
CA358202114 rs1296111029 |
223 | V>A | No |
ClinGen gnomAD |
|
|
rs1309021294 CA358202131 |
225 | P>T | No |
ClinGen gnomAD |
|
|
rs990016546 CA104974207 |
228 | G>D | No |
ClinGen Ensembl |
|
|
CA358202205 rs1477455303 |
231 | S>A | No |
ClinGen gnomAD |
|
|
rs1578374377 CA358202207 |
231 | S>C | No |
ClinGen Ensembl |
|
|
CA358202216 rs1420740794 |
232 | F>L | No |
ClinGen gnomAD |
|
|
rs779106357 CA3058694 |
235 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs13103807 CA104974208 |
236 | P>L | No |
ClinGen Ensembl |
|
|
CA3058695 rs746162581 |
236 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3058697 rs780190367 |
237 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1289640006 CA358202283 |
238 | G>V | No |
ClinGen gnomAD |
|
|
CA104974209 rs887723176 |
241 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 242 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747430937 CA3058698 |
246 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 247 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770347077 CA3058701 |
250 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 251 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760152392 CA3058705 |
251 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3058704 COSM202461 rs752275226 |
251 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA104974210 rs1037871566 |
252 | P>L | No |
ClinGen Ensembl |
|
|
CA358202468 rs1475858384 |
256 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1160143393 CA358202481 |
259 | P>T | No |
ClinGen gnomAD |
|
|
CA358202496 rs1397931406 |
261 | S>A | No |
ClinGen gnomAD |
|
|
CA323311 RCV000198790 rs863223714 |
262 | E>D | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
RCV000521553 CA358202510 rs1553960195 |
263 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 263 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358202522 rs1450198422 |
265 | L>R | No |
ClinGen gnomAD |
1 associated diseases with Q9NPC6
[MIM: 613838]: Cardiomyopathy, familial hypertrophic 16 (CMH16)
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:17347475}. 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:17347475}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for Q9NPC6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | EF-hand domain | 29 - 77 | IPR002048-1 |
| domain | EF-hand domain | 98 - 133 | IPR002048-2 |
| domain | DJBP, EF-hand domain | 102 - 160 | IPR015070 |
| binding_site | EF-Hand 1, calcium-binding site | 42 - 54 | IPR018247 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated 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. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| FATZ binding | Binding to a member of the FATZ family of proteins, filamin-, actinin-, and telethonin-binding proteins of the Z-disc of striated muscle. FATZ proteins are located in the Z-disc of the sarcomere and are involved in a complex network of interactions with other Z-band components. |
| protein phosphatase 2B binding | Binding to a protein phosphatase 2B. |
| telethonin binding | Binding to telethonin, a protein found in the Z disc of striated muscle and which is a substrate of the titin kinase. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of calcineurin-NFAT signaling cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of the calcineurin-NFAT signaling cascade. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| sarcomere organization | The myofibril assembly process that results in the organization of muscle actomyosin into sarcomeres. The sarcomere is 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. |
| skeletal muscle fiber adaptation | Any process in which the skeletal muscle fibers change their phenotypic profiles in response to altered functional demands and a variety of signals. Muscle fibers are formed by the maturation of myotubes. They can be classed as slow, intermediate/fast or fast. |
| skeletal muscle tissue development | The developmental sequence of events leading to the formation of adult skeletal muscle tissue. The main events are: the fusion of myoblasts to form myotubes that increase in size by further fusion to them of myoblasts, the formation of myofibrils within their cytoplasm and the establishment of functional neuromuscular junctions with motor neurons. At this stage they can be regarded as mature muscle fibers. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLSHNTMMKQ | RKQQATAIMK | EVHGNDVDGM | DLGKKVSIPR | DIMLEELSHL | SNRGARLFKM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RQRRSDKYTF | ENFQYQSRAQ | INHSIAMQNG | KVDGSNLEGG | SQQAPLTPPN | TPDPRSPPNP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DNIAPGYSGP | LKEIPPEKFN | TTAVPKYYQS | PWEQAISNDP | ELLEALYPKL | FKPEGKAELP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DYRSFNRVAT | PFGGFEKASR | MVKFKVPDFE | LLLLTDPRFM | SFVNPLSGRR | SFNRTPKGWI |
| 250 | 260 | ||||
| SENIPIVITT | EPTDDTTVPE | SEDL |