Q96EY8
PR
Gene name |
MMAB |
Protein name |
Corrinoid adenosyltransferase MMAB |
Names |
ATP:co(I)rrinoid adenosyltransferase MMAB, Methylmalonic aciduria type B protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:326625 |
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
7 structures for Q96EY8
267 variants for Q96EY8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001067639 rs1884749143 |
1 | M>L | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs869320655 RCV000210846 |
1 | M>T | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001113946 rs1884748119 |
3 | V>M | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001576371 CA386641620 RCV000665638 rs1481415459 |
4 | C>* | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs146668962 CA6779089 RCV000883287 |
4 | C>R | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs769048646 CA6779087 RCV001277396 |
5 | G>D | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6779081 RCV001314546 rs755568905 |
14 | S>N | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000756342 rs921232728 RCV001869021 CA243451913 |
15 | R>C | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs367711757 RCV001065308 CA6779080 |
15 | R>H | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_038803 rs10774775 RCV000247935 RCV000389849 RCV000351606 RCV000605966 RCV001668597 CA6779078 RCV000298750 |
19 | R>H | Methylmalonic acidemia Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_017203 RCV000589479 rs36013132 RCV000408901 CA347899 |
19 | R>Q | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002024925 CA312720 rs763383858 COSM3687944 |
21 | C>S | large_intestine Methylmalonic aciduria, cblB type [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002556226 CA6779069 rs767706407 RCV001113945 |
23 | G>D | Inborn genetic diseases Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002519149 RCV000387095 RCV002518922 CA6779067 rs150895111 |
27 | L>F | Inborn genetic diseases Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000673427 rs1555276160 |
36 | G>missing | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001277395 CA386641183 rs1466525448 |
39 | G>D | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001113944 RCV002556225 rs764683053 CA6779030 |
53 | P>L | Inborn genetic diseases Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6779026 RCV001277394 rs759809454 |
62 | T>A | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001804921 RCV000539204 CA312710 RCV001704966 RCV001112610 RCV001112609 rs115802744 |
62 | T>M | Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6779004 RCV001277393 rs147297426 |
69 | S>T | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1389815526 CA386639737 RCV001829450 RCV000508571 |
74 | E>D | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs571555515 RCV001246675 CA6779000 |
83 | F>L | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1185132313 CA386639576 RCV001304679 |
83 | F>S | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001112608 rs770743560 CA6778999 |
85 | A>V | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001042369 CA6778998 rs143935056 |
86 | V>M | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000202588 CA347809 rs864309509 VAR_023471 |
96 | I>T | Methylmalonic aciduria, cblB type MMAB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000202589 rs864309511 CA278561 |
97 | G>E | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs765917146 RCV000642154 CA6778961 |
106 | K>E | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs551289581 RCV001828509 CA6778956 RCV000485504 |
116 | K>E | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001065171 rs573706523 CA6778932 |
124 | V>I | Variant assessed as Somatic; 0.0 impact. Methylmalonic aciduria, cblB type [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6778930 RCV000642153 rs193015172 |
125 | G>S | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs771053425 CA6778929 RCV000673685 RCV000498258 |
126 | S>L | Variant assessed as Somatic; 0.0 impact. Methylmalonic aciduria, cblB type [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000672026 rs1555274650 |
130 | T>missing | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001703464 RCV000824472 rs147457956 RCV002524773 CA6778924 |
132 | C>R | Inborn genetic diseases Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000668683 CA6778922 rs749936057 |
133 | S>F | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs138708209 CA6778921 RCV001110623 |
134 | S>L | Variant assessed as Somatic; 0.0 impact. Methylmalonic aciduria, cblB type [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002271462 RCV000482151 RCV000203394 rs35648932 VAR_017204 CA347906 |
135 | A>T | Methylmalonic aciduria, cblB type MMAB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA243448350 RCV000792770 rs886198506 |
142 | Y>H | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000666211 RCV001194231 rs557884699 CA386637472 |
152 | E>* | Methylmalonic acidemia Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001035736 rs1884201610 |
156 | W>* | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200690789 RCV003166608 CA6778891 RCV001279875 |
168 | T>M | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases Methylmalonic aciduria, cblB type [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000514970 RCV000671507 rs140881518 CA6778842 |
174 | S>L | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6778837 RCV001279874 rs368584846 |
180 | S>L | Variant assessed as Somatic; 0.0 impact. Methylmalonic aciduria, cblB type [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000696401 CA386637008 rs1439180009 |
181 | A>T | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA6778835 RCV000351353 rs764164596 RCV002522219 |
181 | A>V | Inborn genetic diseases Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs752866643 RCV001804941 RCV000202581 CA278559 |
183 | H>L | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001066216 CA6778833 rs767774574 |
185 | C>Y | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000667435 CA6778832 rs773059864 |
186 | R>Q | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002512694 CA312714 RCV000003241 RCV000186017 VAR_017205 RCV000296390 rs28941784 |
186 | R>W | Methylmalonic acidemia Inborn genetic diseases Methylmalonic aciduria, cblB type MMAB [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555274496 RCV001804922 RCV000186021 RCV000669812 |
188 | V>missing | Methylmalonic acidemia Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs869320654 RCV000210838 CA358789 |
188 | V>G | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs768176676 RCV000666491 CA6778828 |
188 | V>M | Variant assessed as Somatic; 4.987e-05 impact. Methylmalonic aciduria, cblB type [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001317043 rs1555274496 |
188 | V>missing | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3720232 RCV000790778 RCV000203347 CA223862 rs398124434 |
190 | R>C | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue Methylmalonic aciduria, cblB type [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000186018 CA312716 COSM200789 RCV000203392 rs756414548 RCV001420745 |
190 | R>H | Methylmalonic acidemia Variant assessed as Somatic; 0.0 impact. large_intestine Methylmalonic aciduria, cblB type [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs746219370 RCV000203356 CA347882 RCV002517365 RCV002281067 |
191 | R>Q | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases Methylmalonic aciduria, cblB type [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs376128990 CA347810 RCV000414492 RCV002515492 VAR_017206 RCV000202597 |
191 | R>W | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases Methylmalonic aciduria, cblB type MMAB [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000202602 RCV002509298 rs864309512 |
191 | R>missing | Methylmalonic acidemia Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555274497 RCV000003243 |
192 | A>missing | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555274497 RCV000674468 |
193 | E>missing | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000669558 rs749758687 VAR_017207 CA6778824 |
193 | E>K | Variant assessed as Somatic; 0.0 impact. Methylmalonic aciduria, cblB type MMAB [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000625542 rs749758687 CA386636823 |
193 | E>Q | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1592997663 RCV000803441 |
194 | R>missing | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000415894 CA16043787 RCV001527671 rs1057519147 |
194 | R>S | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000797106 rs199853576 CA6778823 |
195 | R>C | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM3782698 RCV000202574 CA278556 rs756195708 RCV000780426 |
195 | R>H | Methylmalonic acidemia prostate Methylmalonic aciduria, cblB type [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000669393 rs1555274493 |
196 | V>missing | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6778797 rs780166156 RCV001239723 |
197 | V>L | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10636405 RCV000326468 rs886048927 |
198 | P>L | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002527401 RCV000814646 CA6778791 RCV000513550 rs61739388 |
207 | A>V | Inborn genetic diseases Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001211421 RCV000277473 CA10604766 rs200903284 |
209 | V>M | Variant assessed as Somatic; 0.0 impact. Methylmalonic aciduria, cblB type [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA243447483 rs940651669 RCV001109832 |
218 | D>E | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM3703849 RCV000424166 RCV000203386 RCV002509300 CA347903 rs765547005 |
219 | Y>C | liver Methylmalonic aciduria, cblB type [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000668717 rs1383825118 |
221 | F>missing | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001279871 CA6778765 rs142070439 RCV001357401 |
222 | T>M | Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000780427 RCV000420410 RCV000190603 rs369296618 CA312718 |
234 | Q>* | Methylmalonic acidemia Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001274799 RCV000611494 CA285762 RCV000082328 RCV000590350 rs9593 VAR_017208 |
239 | M>K | Glycogen storage disease due to glucose-6-phosphatase deficiency type IA Methylmalonic aciduria, cblB type [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA386641661 rs1157166932 |
2 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1157166932 CA386641660 |
2 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1157166932 CA386641659 |
2 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386641653 rs1455449419 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs769048646 CA6779088 |
5 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386641615 rs1218365048 |
5 | G>S | No |
ClinGen TOPMed |
|
|
CA386641602 rs769048646 |
5 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485879857 CA386641584 |
6 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1485879857 CA386641589 |
6 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386641596 rs1190176115 |
6 | L>V | No |
ClinGen gnomAD |
|
|
CA386641573 rs1243516923 |
7 | G>E | No |
ClinGen gnomAD |
|
|
rs1228648416 CA386641582 |
7 | G>R | No |
ClinGen TOPMed |
|
|
rs745645666 CA6779086 |
9 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1051133948 CA243451916 |
9 | R>P | No |
ClinGen gnomAD |
|
|
CA386641520 rs1273536043 |
10 | L>H | No |
ClinGen TOPMed |
|
|
rs778630670 CA6779085 |
10 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs778630670 CA386641530 |
10 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1481780966 CA386641502 |
11 | G>A | No |
ClinGen TOPMed |
|
|
rs749112019 CA6779083 |
11 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6779082 rs533819939 |
12 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386641466 rs1248896950 |
14 | S>R | No |
ClinGen TOPMed |
|
|
CA386641456 rs367711757 |
15 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386641431 rs1337192403 |
17 | G>V | No |
ClinGen gnomAD |
|
|
rs374802787 CA6779079 |
18 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1566139298 CA386641415 |
19 | R>G | No |
ClinGen Ensembl |
|
|
CA386641411 rs10774775 |
19 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386641406 rs1566139259 |
20 | G>R | No |
ClinGen Ensembl |
|
|
CA6779073 rs751944516 |
20 | G>V | No |
ClinGen ExAC |
|
|
CA386641402 rs763383858 |
21 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765869812 CA6779070 |
22 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6779071 rs773816976 |
22 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386641347 rs1482460047 |
25 | A>D | No |
ClinGen gnomAD |
|
|
CA386641342 rs1255926992 |
26 | R>G | No |
ClinGen gnomAD |
|
|
rs539715623 CA386641334 |
26 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs150895111 CA386641328 |
27 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386641322 rs1295581786 |
27 | L>P | No |
ClinGen gnomAD |
|
|
CA386641289 rs1397594349 |
30 | P>L | No |
ClinGen gnomAD |
|
|
rs550461600 CA6779065 |
30 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs142447736 CA6779064 |
31 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386641282 rs142447736 |
31 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1221442813 CA386641279 |
31 | R>H | No |
ClinGen TOPMed |
|
|
CA243451892 rs991822103 |
35 | R>C | No |
ClinGen Ensembl |
|
|
CA6779061 rs756081192 |
37 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA386641185 rs1355023968 |
39 | G>C | No |
ClinGen gnomAD |
|
|
CA386641187 rs1355023968 |
39 | G>S | No |
ClinGen gnomAD |
|
|
CA386641179 rs1466525448 |
39 | G>V | No |
ClinGen TOPMed |
|
|
CA386641173 rs1189614583 |
40 | V>L | No |
ClinGen TOPMed |
|
|
CA243451890 rs952546917 |
42 | D>V | No |
ClinGen TOPMed |
|
|
rs747649185 CA6779060 |
44 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6779059 rs780742465 |
45 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1208127660 CA386640530 |
46 | P>S | No |
ClinGen gnomAD |
|
|
CA6779032 rs375412819 |
50 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747948804 CA243451587 |
51 | K>E | No |
ClinGen Ensembl |
|
|
rs1566137866 CA386640378 |
54 | R>G | No |
ClinGen Ensembl |
|
|
CA6779029 rs760645210 |
56 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386640246 rs1409198400 |
61 | K>Q | No |
ClinGen gnomAD |
|
|
rs767626783 CA6779027 |
61 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA243451583 rs115802744 |
62 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386639871 rs1360503313 |
66 | G>E | No |
ClinGen gnomAD |
|
|
CA386639868 rs1360503313 |
66 | G>V | No |
ClinGen gnomAD |
|
|
CA386639840 rs1296874378 |
68 | S>C | No |
ClinGen gnomAD |
|
|
rs147297426 CA6779003 |
69 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771667098 CA6779002 |
69 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA386639819 rs1170620183 |
70 | T>A | No |
ClinGen gnomAD |
|
|
rs572383545 CA243451127 |
79 | D>N | No |
ClinGen TOPMed |
|
|
CA386639639 rs1184367667 |
80 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 85 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386639525 rs1206707582 |
87 | G>V | No |
ClinGen gnomAD |
|
|
CA243451121 rs994513423 |
89 | T>A | No |
ClinGen gnomAD |
|
|
rs1414136461 CA386639497 |
90 | D>G | No |
ClinGen TOPMed |
|
|
CA6778997 rs778256928 |
92 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA386639451 rs1422698047 |
93 | S>I | No |
ClinGen TOPMed |
|
| TCGA novel | 94 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386639432 rs1158804708 |
95 | A>T | No |
ClinGen gnomAD |
|
|
rs756445649 CA6778996 |
95 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs748625642 CA6778995 |
96 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6778994 rs755006914 |
97 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA386638671 rs1409906374 |
101 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1274386577 CA386638629 |
107 | G>V | No |
ClinGen TOPMed |
|
|
CA386638624 rs1371803607 |
108 | H>R | No |
ClinGen gnomAD |
|
|
rs112135078 CA243450449 |
109 | T>A | No |
ClinGen Ensembl |
|
|
rs762404377 CA6778960 |
109 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376219481 CA386638601 |
112 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM934846 rs376219481 CA6778957 |
112 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA386638574 rs1422394210 |
115 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6778936 rs776280248 |
118 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs768944676 CA6778935 |
118 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA386637741 rs1384787742 |
120 | T>I | No |
ClinGen gnomAD |
|
|
rs775952240 CA6778933 |
122 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1459109378 CA386637726 |
123 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1454037914 CA386637707 |
126 | S>P | No |
ClinGen gnomAD |
|
|
rs778169806 CA6778927 |
127 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386637703 rs1466039282 |
127 | A>T | No |
ClinGen gnomAD |
|
|
CA386637699 rs778169806 |
127 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386637695 rs1345625345 |
128 | L>P | No |
ClinGen gnomAD |
|
|
rs201189970 CA6778926 |
129 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1369813638 CA386637681 |
131 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA386637682 rs1369813638 |
131 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs149342750 CA6778923 |
133 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1328998235 CA386637656 |
135 | A>V | No |
ClinGen TOPMed |
|
|
CA312712 rs796051994 |
136 | R>Q | No |
ClinGen TOPMed |
|
|
CA6778919 rs763783083 |
136 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs775783529 CA6778917 |
137 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1190696935 CA386637637 |
139 | H>Y | No |
ClinGen gnomAD |
|
|
rs1047443761 CA243448348 |
142 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs561864335 CA243448346 |
144 | T>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1231969665 CA386637565 |
144 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1452974630 CA386637559 |
145 | F>L | No |
ClinGen gnomAD |
|
|
CA386637528 rs557920029 |
147 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs922911513 CA243448343 |
147 | A>T | No |
ClinGen Ensembl |
|
|
rs557920029 CA243448341 |
147 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6778897 rs767704391 |
148 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs943273596 CA386637487 |
150 | I>M | No |
ClinGen gnomAD |
|
|
rs539251533 CA243448334 |
152 | E>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA6778895 rs557884699 |
152 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1275498573 CA386637453 |
153 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 155 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776126789 CA243448333 |
155 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 157 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243448331 rs925180956 |
158 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA386637353 rs1592998293 |
160 | Y>D | No |
ClinGen Ensembl |
|
|
rs773496112 CA6778892 |
161 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1302730474 CA386637332 |
161 | T>S | No |
ClinGen TOPMed |
|
|
CA243448329 rs577753987 |
162 | S>R | No |
ClinGen 1000Genomes |
|
|
rs1393437649 CA386637293 |
164 | L>F | No |
ClinGen TOPMed |
|
|
rs1393437649 CA386637296 |
164 | L>I | No |
ClinGen TOPMed |
|
|
CA386637268 rs1376405523 |
166 | P>A | No |
ClinGen TOPMed |
|
|
CA386637259 rs1406699984 |
166 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1191240743 CA386637242 |
168 | T>A | No |
ClinGen gnomAD |
|
|
rs200690789 CA386637236 |
168 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6778890 rs376727501 |
169 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1193434097 CA386637232 |
169 | A>T | No |
ClinGen gnomAD |
|
|
CA243448326 rs376727501 |
169 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs966498969 CA386637202 |
171 | I>F | No |
ClinGen TOPMed |
|
|
CA386637196 rs1214346616 |
171 | I>N | No |
ClinGen gnomAD |
|
|
CA243448324 rs966498969 |
171 | I>V | No |
ClinGen TOPMed |
|
|
rs1197390393 CA386637188 |
172 | L>V | No |
ClinGen gnomAD |
|
|
rs758790126 CA6778840 |
175 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575072979 CA6778839 |
175 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758790126 CA386637076 |
175 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 177 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386637043 rs1215242595 |
177 | K>N | No |
ClinGen TOPMed |
|
|
rs779556526 CA6778838 |
178 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs943904613 CA243448247 |
180 | S>A | No |
ClinGen TOPMed |
|
| TCGA novel | 183 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs398124434 RCV000324116 CA10603291 |
190 | R>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs398124434 CA386636849 |
190 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779276108 CA6778826 |
192 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 192 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243448229 rs749758687 |
193 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386636795 rs199853576 |
195 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386636796 rs199853576 |
195 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386636286 rs1214655242 |
197 | V>A | No |
ClinGen gnomAD |
|
|
CA6778796 rs757055883 |
199 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA386636217 rs1232769657 |
202 | M>I | No |
ClinGen gnomAD |
|
|
rs1374224361 CA386636203 |
203 | G>E | No |
ClinGen gnomAD |
|
|
rs764090327 CA6778794 |
204 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs753618419 CA6778795 |
204 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461731163 CA386636163 |
206 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs749182356 CA6778792 |
206 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566131105 CA386636165 |
206 | D>V | No |
ClinGen Ensembl |
|
| TCGA novel | 207 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386636052 rs1291926720 |
215 | R>G | No |
ClinGen TOPMed |
|
|
rs1178410308 CA386636046 |
215 | R>K | No |
ClinGen gnomAD |
|
|
CA6778768 rs762457418 |
218 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6778767 rs772924101 |
219 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1281109870 CA386635737 |
220 | L>P | No |
ClinGen gnomAD |
|
|
CA386635671 rs1447749873 |
226 | Y>H | No |
ClinGen TOPMed |
|
|
rs1428539449 CA386635622 |
229 | M>I | No |
ClinGen gnomAD |
|
|
CA6778761 rs371960953 |
229 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149041607 CA6778760 |
230 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1312928655 CA386635591 |
231 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1175831214 CA386635547 |
235 | E>G | No |
ClinGen gnomAD |
|
|
CA6778759 rs144880448 |
235 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386635542 rs1383888617 |
236 | K>E | No |
ClinGen gnomAD |
|
|
CA243447475 rs975193925 |
238 | Y>H | No |
ClinGen TOPMed |
|
|
rs9593 CA386635518 |
239 | M>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs9593 CA6778757 |
239 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386635520 rs1422285746 |
239 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs757959574 CA6778754 |
243 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs765740924 CA6778755 |
243 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs762138026 CA6778751 |
244 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764919879 CA6778752 |
244 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA386635477 rs1297458549 |
245 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 246 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771993425 CA386635476 |
246 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6778746 rs771993425 |
246 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6778745 rs746005025 |
248 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416044039 CA386635440 |
249 | G>R | No |
ClinGen gnomAD |
|
|
CA243447468 rs977127661 |
251 | L>R | No |
ClinGen Ensembl |
No associated diseases with Q96EY8
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| cob(I)yrinic acid a,c-diamide adenosyltransferase activity | Catalysis of the reaction: ATP + cob(I)alamin + H2O = phosphate + diphosphate + adenosylcobalamin. |
| cobalamin binding | Binding to cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. |
| transferase activity, transferring alkyl or aryl (other than methyl) groups | Catalysis of the transfer of an alkyl or aryl (but not methyl) group from one compound (donor) to another (acceptor). |
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. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAVCGLGSRL | GLGSRLGLRG | CFGAARLLYP | RFQSRGPQGV | EDGDRPQPSS | KTPRIPKIYT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KTGDKGFSST | FTGERRPKDD | QVFEAVGTTD | ELSSAIGFAL | ELVTEKGHTF | AEELQKIQCT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LQDVGSALAT | PCSSAREAHL | KYTTFKAGPI | LELEQWIDKY | TSQLPPLTAF | ILPSGGKISS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ALHFCRAVCR | RAERRVVPLV | QMGETDANVA | KFLNRLSDYL | FTLARYAAMK | EGNQEKIYMK |
| NDPSAESEGL |