Q9H3L0
PR
Gene name |
MMADHC |
Protein name |
Cobalamin trafficking protein CblD |
Names |
CblD, Methylmalonic aciduria and homocystinuria type D protein, mitochondrial |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:27249 |
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
4 structures for Q9H3L0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5CUZ | X-ray | 231 A | A | 108-296 | PDB |
| 5CV0 | X-ray | 190 A | A/B | 108-296 | PDB |
| 6X8Z | X-ray | 250 A | A/B | 108-296 | PDB |
| AF-Q9H3L0-F1 | Predicted | AlphaFoldDB |
272 variants for Q9H3L0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1553454436 RCV000576880 |
8 | R>missing | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinVar dbSNP |
|
rs756550492 RCV000805239 CA1902510 COSM1641662 |
14 | Y>C | Methylmalonic aciduria and homocystinuria type cblD stomach [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397509361 RCV000000800 RCV000203371 |
19 | C>* | Methylmalonic aciduria and homocystinuria type cblD Vitamin B12-responsive methylmalonic acidemia, type cblDv2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000203311 rs864309742 |
21 | L>missing | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinVar dbSNP |
|
CA312747 RCV001035983 RCV001128927 COSM3728166 rs549522925 |
25 | V>F | Disorders of Intracellular Cobalamin Metabolism Methylmalonic aciduria and homocystinuria type cblD haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1902504 RCV000439505 RCV000304535 RCV000421018 rs61750442 RCV001083973 |
29 | K>N | Disorders of Intracellular Cobalamin Metabolism Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000203409 rs864309740 |
45 | A>missing | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1902496 RCV000986829 rs749521854 |
46 | A>P | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001341596 rs755472574 CA1902491 |
51 | I>T | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM276085 CA114489 RCV000203332 rs118204047 RCV000000801 |
54 | R>* | large_intestine Methylmalonic aciduria and homocystinuria type cblD Variant assessed as Somatic; impact. Vitamin B12-responsive methylmalonic acidemia, type cblDv2 [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001128925 RCV001128926 rs1682767724 |
56 | V>M | Disorders of Intracellular Cobalamin Metabolism Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000203370 rs864309741 |
77 | N>missing | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinVar dbSNP |
|
CA913189916 RCV000779281 rs1558847906 |
82 | C>* | Disorders of Intracellular Cobalamin Metabolism [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000353552 rs760590651 RCV000298719 CA1902460 |
82 | C>G | Disorders of Intracellular Cobalamin Metabolism Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003168498 RCV000392417 RCV000338725 rs767542742 CA1902458 |
85 | N>S | Disorders of Intracellular Cobalamin Metabolism Methylmalonic aciduria and homocystinuria type cblD Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000791752 rs1573878695 |
99 | L>missing | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397509362 RCV000000802 RCV000203341 |
103 | L>missing | Methylmalonic aciduria and homocystinuria type cblD Vitamin B12-responsive methylmalonic acidemia, type cblDv2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs533388008 RCV001062191 RCV003160503 CA1902451 |
104 | A>V | Methylmalonic aciduria and homocystinuria type cblD Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
| VAR_043843 | 108 | S>SLAEPLS | MAHCD; cblD variant 2 [UniProt] | Yes | UniProt |
|
RCV001091564 RCV002555952 CA1902444 rs777544556 |
122 | E>K | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001135921 CA1902417 rs760971849 RCV001135920 |
125 | G>R | Disorders of Intracellular Cobalamin Metabolism Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA348870382 RCV001333885 rs1345924349 |
136 | S>G | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA1902412 rs113390214 RCV001315736 |
138 | E>D | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000390056 rs61746421 CA1902413 RCV000641151 RCV000443091 |
138 | E>K | Disorders of Intracellular Cobalamin Metabolism Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA251601 rs397509363 RCV000000804 |
140 | Y>* | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000295930 CA1902408 RCV000426507 RCV000641150 rs34886916 |
143 | S>I | Disorders of Intracellular Cobalamin Metabolism Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs146795035 CA1902403 RCV000814185 |
152 | T>R | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs864309743 RCV000203351 |
153 | C>missing | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10588310 RCV000255676 RCV003155139 rs886039425 RCV001833299 |
158 | R>* | Cobalamin C disease Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001134453 rs114276563 RCV000478018 RCV000421140 RCV001081476 CA1902398 |
158 | R>Q | Disorders of Intracellular Cobalamin Metabolism Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000320341 RCV000907095 CA1902362 rs147318949 |
172 | K>T | Disorders of Intracellular Cobalamin Metabolism Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1308639482 RCV001038948 |
182 | T>missing | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinVar dbSNP |
|
CA114487 rs118204045 RCV000000798 VAR_043844 |
182 | T>N | Homocystinuria, cblD type, variant 1 MAHCD; cblD variant 1; impairs interaction with MMACHC [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1682706954 RCV001052184 |
186 | M>missing | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinVar dbSNP |
|
rs61755260 CA1902354 RCV001239948 |
186 | M>T | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000297142 rs147370143 RCV000324144 CA1902350 RCV001081306 |
193 | V>A | Disorders of Intracellular Cobalamin Metabolism Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD |
|
CA348869923 rs1553453961 RCV000661940 |
203 | K>E | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_043845 | 204 | F>del | MAHCD; cblD original [UniProt] | Yes | UniProt |
|
RCV003114366 RCV000861484 RCV000202753 RCV000259535 rs138607412 CA248941 |
206 | N>S | Disorders of Intracellular Cobalamin Metabolism Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA348869598 COSM1528285 RCV001234309 rs141093638 |
216 | R>* | lung Methylmalonic aciduria and homocystinuria type cblD [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001128816 RCV001091563 RCV000641147 CA312745 RCV000186037 rs141093638 |
216 | R>G | Disorders of Intracellular Cobalamin Metabolism Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1682617973 RCV001261554 |
235 | G>missing | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinVar dbSNP |
|
rs143753228 CA1902282 RCV000880192 |
236 | P>L | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001041753 rs1408840913 CA348869383 |
246 | D>G | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA1902275 rs544727246 RCV000756344 RCV001835948 |
248 | R>C | Variant assessed as Somatic; 0.0 impact. Methylmalonic aciduria and homocystinuria type cblD [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs756858861 RCV000997224 CA1902274 RCV001279363 |
248 | R>H | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs118204046 VAR_043846 RCV001844002 RCV002251849 CA114488 RCV000000799 RCV001378885 |
249 | Y>C | Homocystinuria, cblD type, variant 1 Cobalamin C disease Methylmalonic aciduria and homocystinuria type cblD MAHCD; cblD variant 1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA251599 RCV000000803 RCV001818114 rs118204048 |
250 | R>* | Variant assessed as Somatic; 0.0 impact. Methylmalonic aciduria and homocystinuria type cblD [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001229965 CA1902268 rs773493767 |
255 | S>C | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV003147271 VAR_043847 rs118204044 CA114486 RCV000000797 |
259 | L>P | Homocystinuria, cblD type, variant 1 Methylmalonic aciduria and homocystinuria type cblD MAHCD; cblD variant 1; decreases methylcobalamin levels and increases adenosylcobalamin levels; no effect on interaction with MMACHC [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000367307 CA1902258 RCV000312594 rs753424109 |
267 | H>R | Disorders of Intracellular Cobalamin Metabolism Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001279361 rs1401528755 CA348868729 |
290 | M>R | Methylmalonic aciduria and homocystinuria type cblD [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA1902529 rs753911939 |
2 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1308795683 CA348871281 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs764550264 CA348871280 |
3 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1902528 rs764550264 |
3 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA1902527 rs756642186 |
3 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529455427 CA58334121 |
3 | N>S | No |
ClinGen gnomAD |
|
|
CA58333612 rs371740443 |
4 | V>M | No |
ClinGen ESP |
|
|
CA348871251 rs1457237939 |
5 | L>P | No |
ClinGen gnomAD |
|
|
CA348871244 rs1159486541 |
6 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA348871248 rs1452262242 |
6 | C>R | No |
ClinGen TOPMed |
|
|
CA348871245 rs1159486541 |
6 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1389820565 CA348871237 |
7 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA348871238 rs1389820565 |
7 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA348871239 rs1395336239 |
7 | N>Y | No |
ClinGen TOPMed |
|
|
rs777848447 CA348871198 |
13 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777848447 CA1902511 |
13 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1902509 rs200819691 |
15 | L>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA1902508 rs768073505 |
18 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs905523537 CA58333610 |
19 | C>W | No |
ClinGen TOPMed |
|
|
CA348871155 rs1472806613 |
20 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1472806613 CA348871154 |
20 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA348871150 rs1238772425 |
21 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1573880136 CA348871153 |
21 | L>V | No |
ClinGen Ensembl |
|
|
rs904420258 CA58333609 |
24 | R>G | No |
ClinGen gnomAD |
|
|
rs755350187 CA1902507 |
24 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348871130 rs1206729629 |
24 | R>T | No |
ClinGen gnomAD |
|
|
CA58333608 rs549522925 |
25 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766017009 CA1902506 |
27 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348871110 rs1319731753 |
28 | P>A | No |
ClinGen gnomAD |
|
|
rs762537066 CA1902505 |
29 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs764844761 CA1902503 |
30 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs780143636 CA58333607 |
30 | A>T | No |
ClinGen gnomAD |
|
|
COSM1399882 rs1434979492 CA348871081 |
32 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1323175121 CA348871077 |
33 | T>I | No |
ClinGen gnomAD |
|
|
CA58333605 rs1057389942 |
35 | G>A | No |
ClinGen gnomAD |
|
|
rs1057389942 CA348871065 |
35 | G>E | No |
ClinGen gnomAD |
|
|
CA58333604 rs11545265 |
37 | S>T | No |
ClinGen Ensembl |
|
|
rs1386535158 CA348871047 |
38 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs746785981 CA1902499 |
39 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1248521016 CA348871036 |
40 | D>G | No |
ClinGen gnomAD |
|
|
rs373627181 CA1902497 |
43 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775175927 CA1902498 |
43 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348871010 rs1245975393 |
44 | V>A | No |
ClinGen gnomAD |
|
|
rs1573880040 CA348870998 |
46 | A>G | No |
ClinGen Ensembl |
|
|
rs778041300 CA1902495 |
48 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs769854836 CA1902494 |
49 | P>L | No |
ClinGen ExAC |
|
|
CA1902493 rs748278993 |
50 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1902492 rs781704226 |
51 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs118204047 CA348870943 |
54 | R>G | No |
ClinGen gnomAD |
|
|
rs1376956703 CA348870942 |
54 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 55 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348870930 rs1176730276 |
56 | V>A | No |
ClinGen gnomAD |
|
|
CA348870929 rs1176730276 |
56 | V>G | No |
ClinGen gnomAD |
|
|
rs748188672 CA1902471 |
58 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs781154636 CA1902470 |
59 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1181724331 CA348870906 |
60 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1036471862 CA58333336 |
61 | T>A | No |
ClinGen gnomAD |
|
|
rs747475934 CA1902469 |
61 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs747475934 CA1902468 |
61 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 62 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1902467 COSM325827 rs780676909 |
62 | M>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1902466 rs138571795 |
64 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1334273037 CA348870866 |
66 | G>R | No |
ClinGen TOPMed |
|
|
rs1257043449 CA348870853 |
68 | Q>P | No |
ClinGen gnomAD |
|
|
CA348870834 rs1390472205 |
70 | Q>H | No |
ClinGen TOPMed |
|
|
CA348870818 rs1227369889 |
72 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1350765416 CA348870811 |
73 | Q>H | No |
ClinGen gnomAD |
|
|
CA58333335 rs1008765976 |
73 | Q>R | No |
ClinGen gnomAD |
|
|
CA1902463 rs756998611 |
75 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs11545269 CA58333334 |
78 | I>M | No |
ClinGen Ensembl |
|
|
rs753336371 CA1902462 |
78 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs566530487 CA58333333 |
79 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1302637256 CA348870761 |
81 | D>E | No |
ClinGen TOPMed |
|
|
rs368471008 CA1902459 |
82 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs550055732 CA1902457 |
88 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1365707483 CA348870711 |
89 | S>L | No |
ClinGen gnomAD |
|
|
rs1185711564 CA348870707 |
90 | Q>* | No |
ClinGen gnomAD |
|
|
rs1573878711 CA348870700 |
91 | K>E | No |
ClinGen Ensembl |
|
|
rs1221832070 CA348870692 |
92 | K>E | No |
ClinGen TOPMed |
|
|
CA1902456 rs774165572 |
94 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185954801 CA348870669 |
95 | V>A | No |
ClinGen gnomAD |
|
|
rs769956575 CA1902455 |
95 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs915273753 CA58333332 |
97 | K>T | No |
ClinGen Ensembl |
|
|
rs762037517 CA1902454 |
98 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA348870643 rs1558847878 |
99 | L>F | No |
ClinGen Ensembl |
|
|
rs776707322 CA1902453 |
100 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs768614592 CA1902452 |
101 | D>Y | No |
ClinGen ExAC |
|
|
RCV001091989 rs1682764315 |
102 | V>missing | No |
ClinVar dbSNP |
|
|
CA348870629 rs1209705053 |
102 | V>I | No |
ClinGen gnomAD |
|
|
CA348870617 rs1353312671 |
104 | A>P | No |
ClinGen gnomAD |
|
|
rs775838388 CA1902450 |
106 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA348870599 rs1320703293 |
107 | L>V | No |
ClinGen gnomAD |
|
|
rs1339360102 CA348870580 |
109 | S>R | No |
ClinGen gnomAD |
|
|
CA348870559 rs746192843 CA1902448 |
112 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1902449 rs774720255 |
112 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1902447 rs779439863 |
117 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1902446 rs756908515 |
120 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1161677408 CA348870495 |
121 | N>K | No |
ClinGen gnomAD |
|
|
RCV000323620 CA10604954 rs886042982 |
124 | Q>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA1902416 rs775651062 |
125 | G>D | No |
ClinGen ExAC |
|
|
rs760971849 CA348870458 |
125 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1902415 rs767705559 |
126 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1215070978 CA348870437 |
128 | A>S | No |
ClinGen gnomAD |
|
|
CA348870434 rs1341440892 |
128 | A>V | No |
ClinGen gnomAD |
|
|
CA1902414 rs367779384 |
129 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 130 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1294350745 CA348870418 |
131 | E>G | No |
ClinGen TOPMed |
|
|
CA348870411 rs1232191985 |
132 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1305114337 CA348870371 |
137 | A>E | No |
ClinGen gnomAD |
|
|
rs763189869 CA1902411 |
139 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs769274724 CA1902409 |
141 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA348870321 rs1431992617 |
145 | R>* | No |
ClinGen gnomAD |
|
|
CA1902407 rs780889876 |
145 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA1902406 rs768142805 |
147 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 147 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746570196 CA1902404 |
150 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA348870277 rs11545261 CA348870276 |
151 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348870273 rs1297688850 |
152 | T>A | No |
ClinGen gnomAD |
|
|
rs1199805848 CA348870265 |
153 | C>F | No |
ClinGen gnomAD |
|
|
rs1294410392 CA348870269 |
153 | C>R | No |
ClinGen gnomAD |
|
|
rs1226772166 CA348870258 |
154 | P>R | No |
ClinGen gnomAD |
|
|
CA348870260 rs1285020980 |
154 | P>S | No |
ClinGen gnomAD |
|
|
CA1902402 rs750134960 |
155 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1005641267 CA58332997 |
160 | D>Y | No |
ClinGen Ensembl |
|
|
rs762133931 CA1902370 |
161 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762133931 CA348870206 |
161 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1902369 rs777010876 |
162 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs760332707 CA1902367 |
164 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA348870173 rs1291048075 |
166 | P>S | No |
ClinGen gnomAD |
|
|
CA348870165 rs1432419299 |
167 | E>G | No |
ClinGen gnomAD |
|
|
rs745423033 CA1902365 |
170 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1902366 rs148666214 |
170 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1386629347 CA348870138 |
171 | G>D | No |
ClinGen gnomAD |
|
|
CA348870134 rs147318949 |
172 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 173 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1902359 rs777727132 |
179 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA58332940 rs374702278 |
180 | Q>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs747231300 CA1902357 |
180 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs758483380 CA1902355 |
184 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348870045 rs1217784699 |
186 | M>V | No |
ClinGen gnomAD |
|
|
CA58332939 rs970302868 |
188 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1902352 rs746513550 |
189 | W>* | No |
ClinGen ExAC |
|
|
CA1902353 rs765734196 |
189 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1305689366 CA348870002 |
192 | E>K | No |
ClinGen gnomAD |
|
|
CA348869977 rs1354993038 |
195 | I>T | No |
ClinGen gnomAD |
|
|
rs1423391135 CA348869970 |
196 | E>G | No |
ClinGen TOPMed |
|
|
CA348869955 rs1431163729 |
198 | E>G | No |
ClinGen gnomAD |
|
|
rs371470974 CA1902348 |
203 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1305630997 CA348869668 |
205 | I>V | No |
ClinGen TOPMed |
|
|
rs138607412 CA58332440 |
206 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1249448795 CA348869654 |
207 | G>C | No |
ClinGen TOPMed |
|
|
rs962894500 CA58332439 |
208 | A>T | No |
ClinGen TOPMed |
|
|
rs967643993 CA58332438 |
212 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1902308 rs376590291 |
213 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749415548 CA1902306 |
214 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1902305 rs778219252 |
215 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1404632518 CA348869600 |
215 | L>P | No |
ClinGen gnomAD |
|
|
CA348869597 rs1443677774 |
216 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1240832175 CA348869588 |
218 | E>K | No |
ClinGen gnomAD |
|
|
rs538303865 CA58332437 |
219 | G>S | No |
ClinGen 1000Genomes |
|
|
rs753050139 CA1902304 |
220 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs781419146 CA1902303 |
221 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA348869534 rs1428649424 |
225 | I>T | No |
ClinGen TOPMed |
|
|
rs751159722 CA348869513 CA1902301 |
228 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751159722 CA348869514 |
228 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349088104 CA348869473 |
233 | F>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 234 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324018775 CA348869455 |
235 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348869439 rs1280251945 |
238 | T>A | No |
ClinGen gnomAD |
|
|
rs755277292 CA1902280 |
240 | N>D | No |
ClinGen ExAC |
|
|
CA348869419 rs1444497220 |
241 | T>A | No |
ClinGen gnomAD |
|
|
CA348869413 rs747419183 |
242 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1902279 rs747419183 |
242 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250249189 CA348869407 |
243 | F>L | No |
ClinGen TOPMed |
|
|
CA348869399 rs1558844679 |
244 | E>Q | No |
ClinGen Ensembl |
|
|
CA1902277 rs758148601 |
246 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408840913 CA348869382 |
246 | D>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 247 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753705103 CA58332359 |
249 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA1902273 rs753705103 |
249 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs760352581 CA1902272 |
250 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1429603095 CA348869290 |
252 | L>* | No |
ClinGen TOPMed |
|
|
rs775292021 CA1902271 |
252 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766533747 CA1902270 |
253 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs763168546 CA1902269 |
254 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1902266 rs748309103 |
256 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA58332358 rs141218539 |
257 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141218539 CA1902265 |
257 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs895880527 CA58332357 |
258 | D>E | No |
ClinGen TOPMed |
|
|
CA1902263 rs373990661 |
259 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1902264 rs373990661 |
259 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1247416959 CA348869165 |
261 | C>F | No |
ClinGen gnomAD |
|
|
rs1287533333 CA348869139 |
262 | C>W | No |
ClinGen gnomAD |
|
|
rs758056552 CA1902262 |
262 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1902261 rs745511129 |
263 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1573873772 CA348869119 |
264 | V>L | No |
ClinGen Ensembl |
|
|
CA348869088 rs1344191765 COSM3425276 |
266 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM1007307 rs756696379 CA1902260 |
266 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs756696379 CA1902259 |
266 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs528082092 CA1902257 |
271 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756095776 CA1902256 |
272 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA348869003 rs1445218138 |
272 | T>S | No |
ClinGen gnomAD |
|
|
CA1902255 rs752425275 |
273 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1902254 rs767298154 |
274 | V>L | No |
ClinGen ExAC |
|
|
rs1294724580 CA348868941 |
276 | V>I | No |
ClinGen TOPMed |
|
|
CA348868915 rs1182520615 |
278 | S>C | No |
ClinGen gnomAD |
|
|
CA1902253 rs369492791 |
279 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1902252 rs765537256 |
281 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs765537256 CA1902251 |
281 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1902250 rs761758709 |
282 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348868812 rs1362174740 |
285 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1573873718 CA348868785 |
286 | D>A | No |
ClinGen Ensembl |
|
|
rs747521549 CA1902247 |
287 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776203619 CA1902246 |
288 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1270407822 CA348868746 |
289 | I>V | No |
ClinGen gnomAD |
|
|
CA348868730 rs1401528755 |
290 | M>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 293 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1902244 rs772552592 |
294 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1902242 rs778395366 |
297 | N>Q | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with Q9H3L0
[MIM: 277410]: Methylmalonic aciduria and homocystinuria, cblD type (MAHCD)
An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, intellectual disability, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2). {ECO:0000269|PubMed:18385497, ECO:0000269|PubMed:24722857, ECO:0000269|PubMed:26483544}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, intellectual disability, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2). {ECO:0000269|PubMed:18385497, ECO:0000269|PubMed:24722857, ECO:0000269|PubMed:26483544}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| cobalamin metabolic process | The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MANVLCNRAR | LVSYLPGFCS | LVKRVVNPKA | FSTAGSSGSD | ESHVAAAPPD | ICSRTVWPDE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TMGPFGPQDQ | RFQLPGNIGF | DCHLNGTASQ | KKSLVHKTLP | DVLAEPLSSE | RHEFVMAQYV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NEFQGNDAPV | EQEINSAETY | FESARVECAI | QTCPELLRKD | FESLFPEVAN | GKLMILTVTQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KTKNDMTVWS | EEVEIEREVL | LEKFINGAKE | ICYALRAEGY | WADFIDPSSG | LAFFGPYTNN |
| 250 | 260 | 270 | 280 | 290 | |
| TLFETDERYR | HLGFSVDDLG | CCKVIRHSLW | GTHVVVGSIF | TNATPDSHIM | KKLSGN |