Q9UK17
PR
Gene name |
KCND3 |
Protein name |
Potassium voltage-gated channel subfamily D member 3 |
Names |
Voltage-gated potassium channel subunit Kv4.3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3752 |
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
212 variants for Q9UK17
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000845314 rs201340369 RCV000413117 RCV000624729 RCV001080205 RCV000618676 |
2 | A>E | Spinocerebellar ataxia type 19/22 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1675024873 RCV001317005 |
28 | P>T | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1307934269 RCV000537289 |
30 | A>D | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001370789 rs1403997481 RCV000712070 |
31 | P>S | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs754042199 RCV001242995 |
86 | R>G | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1571941606 RCV000850227 |
86 | R>Q | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766584545 RCV002480767 RCV001235255 |
116 | D>N | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1675001550 RCV001210201 |
129 | G>A | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002550635 rs143933558 RCV000992223 RCV002327217 |
144 | A>T | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002223220 rs1217571134 RCV000518105 RCV001296003 |
149 | D>G | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1488410733 RCV001040344 |
150 | D>N | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs149488365 RCV000620664 RCV001868114 |
172 | A>T | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000558965 RCV000249346 rs142744204 RCV001555788 RCV000208485 |
214 | K>R | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001268494 RCV000056298 rs397515475 |
227 | F>missing | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_070785 | 227 | F>del | SCA19; results in reduced channel activity consistent with impaired cell surface expression of the mutant protein [UniProt] | Yes | UniProt |
|
RCV000208136 rs869025444 |
273 | G>S | Brugada syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001253322 RCV002462885 rs1674966041 |
290 | R>Q | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001342147 RCV002377451 rs1674965278 |
293 | R>H | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000853618 rs1571939905 |
317 | C>Y | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_070786 RCV000853619 rs1571939827 |
338 | V>E | Spinocerebellar ataxia type 19/22 SCA19 [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
rs797045634 RCV000194577 VAR_070787 |
345 | G>V | Spinocerebellar ataxia type 19/22 SCA19 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
VAR_070788 RCV001268855 rs397515476 RCV000056299 |
352 | T>P | Spinocerebellar ataxia type 19/22 SCA19; loss of channel activity [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV001027678 rs867628133 |
357 | S>L | Spinocerebellar ataxia type 19/22 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs867628133 RCV001300818 |
357 | S>W | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1571939623 RCV001007561 |
359 | W>L | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000430266 RCV003223405 RCV002255097 rs1057521793 CA16603398 RCV000757925 |
371 | G>R | Brugada syndrome 9 Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_070789 CA144860 rs397515477 RCV000056300 |
373 | M>I | Variant of unknown significance SCA19; unknown pathological significance; causes reduced channel activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001266978 rs1664633885 |
375 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA341660982 RCV000853620 rs1571636508 |
375 | P>S | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000853621 RCV001268117 CA341660948 VAR_070790 rs1571636501 |
377 | T>M | Spinocerebellar ataxia type 19/22 SCA19 [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV001289013 rs1664632655 VAR_079709 |
384 | G>S | SCA19 [UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV000416456 rs1057519453 CA16044213 |
385 | S>P | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_070791 rs397515478 RCV000056301 CA144862 RCV001849175 |
390 | S>N | Spinocerebellar ataxia type 19/22 Variant of unknown significance SCA19; unknown pathological significance; results in impaired cell surface expression [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA200132 RCV000460804 rs786205867 VAR_067694 RCV000172844 RCV000444260 |
392 | V>I | Brugada syndrome 9 Spinocerebellar ataxia type 19/22 Variant assessed as Somatic; impact. BRGDA9; unknown pathological significance; gain of function mutation [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV002372712 RCV000992218 RCV002549786 rs760274429 |
426 | R>H | Variant assessed as Somatic; 0.0 impact. Spinocerebellar ataxia type 19/22 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000992219 RCV001226501 RCV000619969 rs771703569 |
431 | R>H | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000542424 rs1172444288 |
438 | S>W | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000640967 rs756087542 |
446 | R>C | Variant assessed as Somatic; 0.0 impact. Spinocerebellar ataxia type 19/22 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000821670 rs1571626928 |
447 | N>D | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000415916 RCV000618307 rs150401343 RCV002247580 RCV000552635 VAR_073831 RCV000172842 |
450 | L>F | Brugada syndrome 9 Spinocerebellar ataxia type 19/22 BRGDA9; unknown pathological significance; gain of function mutation [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV000766997 RCV000852587 RCV002383993 rs200532657 RCV000518610 RCV001078864 |
452 | E>K | Spinocerebellar ataxia type 19/22 Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002481586 RCV000505597 RCV000498826 rs199637120 RCV001857017 |
457 | T>M | Brugada syndrome 9 Variant assessed as Somatic; 0.0 impact. Spinocerebellar ataxia type 19/22 [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV002473233 RCV001231433 rs1571626257 |
463 | E>K | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002391049 rs1571626155 RCV000992220 RCV001214863 |
476 | H>R | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs149008060 RCV002393199 RCV001079066 RCV000786333 RCV000482547 |
486 | T>A | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1216457569 RCV001345248 |
493 | V>G | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000691029 rs976664434 RCV002493172 |
499 | S>C | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs764928165 RCV001038365 |
501 | R>Q | Variant assessed as Somatic; 0.0 impact. Spinocerebellar ataxia type 19/22 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000619982 RCV001289014 rs145890206 RCV001354553 RCV001429957 |
525 | M>V | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_067695 | 530 | S>R | BRGDA9; unknown pathological significance; does not affect the electrophysiological properties of the channel [UniProt] | Yes | UniProt |
|
RCV000555772 rs1553235768 |
534 | P>L | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001313233 rs1447493103 RCV002486221 |
534 | P>T | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000696815 rs35027371 RCV000243000 |
549 | R>H | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001871726 RCV001289015 RCV002393688 RCV002493522 rs151164490 |
550 | R>H | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002550634 RCV000992222 rs761867267 |
566 | R>H | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200212002 RCV001563036 RCV002397224 RCV000640964 |
568 | R>H | Variant assessed as Somatic; 0.0 impact. Spinocerebellar ataxia type 19/22 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs1553235743 RCV000529534 |
570 | M>T | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000700474 rs1420542041 |
581 | S>C | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000801665 rs778053688 RCV000621723 RCV000678953 |
586 | L>V | Brugada syndrome 9 Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1007340 RCV001233302 RCV000712058 rs186194682 |
590 | R>H | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000811749 rs1483036958 CA341655796 |
595 | L>W | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA052108 RCV000712060 RCV002505242 RCV000172843 VAR_067696 rs149344567 RCV000619002 RCV001370775 |
600 | G>R | Brugada syndrome 9 Spinocerebellar ataxia type 19/22 BRGDA9; unknown pathological significance; gain of function mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002406386 RCV000640965 CA28896122 rs948125814 |
617 | I>V | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000801617 rs372362132 RCV002406777 CA1007326 RCV002477834 |
627 | G>R | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001203107 RCV002504232 rs774713377 CA1007323 RCV002411741 RCV003148945 |
630 | R>Q | Variant assessed as Somatic; 0.0 impact. Spinocerebellar ataxia type 19/22 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA1007317 rs777172603 RCV000544304 |
639 | N>K | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1007314 RCV002406387 RCV001266788 rs754759010 RCV000640966 |
642 | I>F | Spinocerebellar ataxia type 19/22 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1557929628 RCV000702238 CA341655147 |
645 | I>T | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs766562520 RCV001226500 CA28895858 |
648 | N>S | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs760907112 RCV001327715 RCV002493711 CA1007310 |
649 | V>A | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs774711788 RCV002418669 CA1007306 RCV001202743 |
654 | A>T | Spinocerebellar ataxia type 19/22 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000622168 rs1339082402 |
13 | R>Q | No |
ClinVar dbSNP |
|
|
rs866544148 RCV000712063 |
15 | A>V | No |
ClinVar dbSNP |
|
| TCGA novel | 16 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 18 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs374337721 | 31 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1198744961 | 37 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760055752 | 49 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1271251092 | 49 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761121098 | 57 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs781094017 | 69 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 74 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 74 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_035775 rs1349469134 |
94 | V>M | Variant assessed as Somatic; 0.0 impact. a colorectal cancer sample; somatic mutation [NCI-TCGA, UniProt] | No |
NCI-TCGA UniProt dbSNP |
| rs1444134502 | 99 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs755294522 | 115 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 122 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750895805 | 124 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553187539 RCV000517048 |
133 | Y>H | No |
ClinVar dbSNP |
|
| TCGA novel | 135 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1675000214 TCGA novel RCV001289017 |
136 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA dbSNP |
|
RCV000712062 rs1557768261 |
145 | E>K | No |
ClinVar dbSNP |
|
| TCGA novel | 146 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1183337083 | 152 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 157 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780219355 | 162 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1408698527 | 166 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1203819200 | 180 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1219355757 RCV000712065 |
185 | F>L | No |
ClinVar dbSNP |
|
| TCGA novel | 192 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 203 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 209 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000617249 RCV003129942 rs771878661 |
209 | T>M | No |
ClinVar dbSNP |
|
| rs1306797985 | 217 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 217 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1332646922 | 221 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778053540 RCV000516938 |
223 | S>P | No |
ClinVar dbSNP |
|
| rs1483590521 | 234 | V>I | Variant assessed as Somatic; 4.646e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 235 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs373756710 | 247 | A>T | Variant assessed as Somatic; 0.0004175 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1189045685 | 253 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 253 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 255 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 280 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 285 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 302 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1674962966 RCV001268242 |
304 | S>P | No |
ClinVar dbSNP |
|
|
RCV000518168 rs1553187267 |
313 | T>A | No |
ClinVar dbSNP |
|
| TCGA novel | 320 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557767012 RCV000712055 |
343 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA dbSNP |
| TCGA novel | 344 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 344 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751093070 | 345 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1064794895 RCV000483449 |
351 | F>L | No |
ClinVar dbSNP |
|
|
RCV000517569 rs397515476 |
352 | T>A | No |
ClinVar dbSNP |
|
| TCGA novel | 360 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA28905266 rs867259775 |
371 | G>K | No |
ClinGen Ensembl |
|
|
CA341660913 rs1314230175 |
381 | K>* | No |
ClinGen gnomAD |
|
|
rs867777260 CA28905198 |
394 | V>I | No |
ClinGen Ensembl |
|
|
CA1007499 rs761950312 |
396 | A>P | No |
ClinGen ExAC gnomAD |
|
|
RCV000413161 CA16042284 rs1057518007 |
399 | V>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 401 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1375300545 CA341660537 |
411 | H>Q | No |
ClinGen TOPMed |
|
|
CA341660509 rs1328664134 |
415 | R>K | No |
ClinGen gnomAD |
|
|
CA341660481 rs1440651109 |
419 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1007498 RCV000420331 rs774338559 |
419 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 423 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs777183510 | 431 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1172444288 | 438 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1489317828 | 443 | H>Q | Variant assessed as Somatic; 4.653e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751734810 | 453 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1064796735 RCV000478027 |
471 | L>F | No |
ClinVar dbSNP |
|
| TCGA novel | 490 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 494 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1664228420 RCV001171758 |
497 | L>missing | No |
ClinVar dbSNP |
|
| rs752361842 | 501 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760468985 | 509 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000617210 rs369907159 |
515 | M>L | No |
ClinVar dbSNP |
|
|
RCV000992221 rs202110939 |
517 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA dbSNP |
| TCGA novel | 532 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 535 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1294150954 RCV003223411 RCV002510932 RCV000617665 |
549 | R>C | No |
ClinVar dbSNP |
|
| rs778141653 | 550 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1486298373 | 564 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748519692 CA1007341 |
590 | R>C | No |
ClinGen ExAC |
|
|
rs903701604 CA28896215 |
591 | S>F | No |
ClinGen Ensembl |
|
|
CA341655887 rs1178039863 |
592 | S>R | No |
ClinGen gnomAD |
|
|
CA28896211 rs113196892 |
599 | D>G | No |
ClinGen Ensembl |
|
|
rs1212724994 CA341655715 |
599 | D>N | No |
ClinGen gnomAD |
|
|
CA28896195 rs375391961 |
601 | L>R | No |
ClinGen ESP TOPMed |
|
|
rs1238596325 CA341655663 |
602 | R>G | No |
ClinGen gnomAD |
|
|
rs1557929853 CA341655491 |
608 | S>F | No |
ClinGen Ensembl |
|
|
CA1007337 rs756814713 |
608 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341655450 rs1571620067 |
611 | T>P | No |
ClinGen Ensembl |
|
|
rs1571620054 CA341655433 |
612 | T>P | No |
ClinGen Ensembl |
|
|
rs1391414445 CA341655419 |
613 | A>P | No |
ClinGen gnomAD |
|
|
rs201275860 CA28896149 |
614 | I>T | No |
ClinGen Ensembl |
|
|
CA1007334 rs777736918 |
615 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1200542588 CA341655334 |
618 | P>L | No |
ClinGen TOPMed |
|
|
CA28896102 rs895254433 |
619 | T>I | No |
ClinGen TOPMed |
|
|
CA341655331 rs1571620006 |
619 | T>P | No |
ClinGen Ensembl |
|
|
CA341655324 rs895254433 |
619 | T>S | No |
ClinGen TOPMed |
|
|
rs758318696 CA1007333 |
620 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752495973 CA1007332 |
621 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199663609 CA1007331 |
622 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341655295 rs1417756814 |
622 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1007330 rs199663609 |
622 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1411904783 CA341655281 |
623 | L>Q | No |
ClinGen gnomAD |
|
|
rs1571619944 CA341655278 |
624 | T>P | No |
ClinGen Ensembl |
|
|
rs760710842 CA1007327 |
626 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA341655255 rs372362132 |
627 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs939370048 CA28896029 |
628 | E>G | No |
ClinGen TOPMed |
|
|
rs772579682 CA1007325 |
628 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA341655243 rs1435444967 |
629 | S>C | No |
ClinGen TOPMed |
|
|
CA341655237 rs1261785107 |
630 | R>W | No |
ClinGen gnomAD |
|
|
rs1219152562 CA341655228 |
631 | P>L | No |
ClinGen TOPMed |
|
|
CA341655224 rs1261735013 |
632 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA341655222 rs1261735013 |
632 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs780988439 CA1007321 |
633 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780988439 CA1007320 |
633 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211163296 CA341655215 |
634 | A>S | No |
ClinGen TOPMed |
|
|
CA341655194 rs1297334561 |
637 | G>D | No |
ClinGen gnomAD |
|
|
rs746497556 CA1007318 |
638 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1387093374 CA341655185 |
639 | N>D | No |
ClinGen gnomAD |
|
|
rs1290082000 CA341655183 |
639 | N>S | No |
ClinGen TOPMed |
|
|
rs758286812 CA1007316 |
640 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752589615 CA1007315 |
640 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs758286812 CA341655179 |
640 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1007313 rs754759010 |
642 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1191988655 CA341655157 |
643 | P>L | No |
ClinGen gnomAD |
|
|
CA341655162 rs1423121554 |
643 | P>S | No |
ClinGen gnomAD |
|
|
rs1430597455 CA341655154 |
644 | S>A | No |
ClinGen gnomAD |
|
|
rs1263058217 CA341655148 |
645 | I>L | No |
ClinGen gnomAD |
|
|
rs910058506 CA28895880 |
646 | A>D | No |
ClinGen TOPMed |
|
|
rs190953266 CA28895882 |
646 | A>S | No |
ClinGen 1000Genomes |
|
|
CA341655136 rs1571619708 |
647 | S>N | No |
ClinGen Ensembl |
|
|
CA341655133 rs1289387391 |
647 | S>R | No |
ClinGen gnomAD |
|
|
CA1007312 rs753669886 |
648 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766562520 CA1007311 |
648 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557929572 CA341655112 |
650 | V>G | No |
ClinGen Ensembl |
|
|
rs767502190 CA1007308 |
650 | V>I | No |
ClinGen ExAC gnomAD |
2 associated diseases with Q9UK17
[MIM: 607346]: Spinocerebellar ataxia 19 (SCA19)
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA19 is a relatively mild, cerebellar ataxic syndrome with cognitive impairment, pyramidal tract involvement, tremor and peripheral neuropathy, and mild atrophy of the cerebellar hemispheres and vermis. {ECO:0000269|PubMed:23280837, ECO:0000269|PubMed:23280838, ECO:0000269|PubMed:28895081}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 616399]: Brugada syndrome 9 (BRGDA9)
A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO:0000269|PubMed:21349352, ECO:0000269|PubMed:22457051}. Note=The gene represented in this entry may be involved in disease pathogenesis.
Without disease ID
- A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA19 is a relatively mild, cerebellar ataxic syndrome with cognitive impairment, pyramidal tract involvement, tremor and peripheral neuropathy, and mild atrophy of the cerebellar hemispheres and vermis. {ECO:0000269|PubMed:23280837, ECO:0000269|PubMed:23280838, ECO:0000269|PubMed:28895081}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. {ECO:0000269|PubMed:21349352, ECO:0000269|PubMed:22457051}. Note=The gene represented in this entry may be involved in disease pathogenesis.
5 regional properties for Q9UK17
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | BTB/POZ domain | 40 - 139 | IPR000210 |
| domain | Potassium channel tetramerisation-type BTB domain | 42 - 131 | IPR003131 |
| domain | Ion transport domain | 184 - 413 | IPR005821 |
| domain | Shal-type voltage-gated potassium channels, N-terminal | 3 - 31 | IPR021645 |
| domain | Potassium channel, voltage dependent, Kv4, C-terminal | 469 - 562 | IPR024587 |
Functions
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| dendritic spine | A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity. |
| GABA-ergic synapse | A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of postsynaptic specialization membrane | The component of the postsynaptic specialization membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
| postsynaptic membrane | A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. |
| sarcolemma | The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers. |
| voltage-gated potassium channel complex | A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| A-type (transient outward) potassium channel activity | Enables the transmembrane transfer of a potassium ion by an outwardly-rectifying voltage-gated channel that produces a transient outward current upon a step change in membrane potential. |
| metal ion binding | Binding to a metal ion. |
| transmembrane transporter binding | Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
| voltage-gated potassium channel activity | Enables the transmembrane transfer of a potassium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| membrane repolarization | The process in which ions are transported across a membrane such that the membrane potential changes in the repolarizing direction, toward the steady state potential. For example, the repolarization during an action potential is from a positive membrane potential towards a negative resting potential. |
| membrane repolarization during cardiac muscle cell action potential | The process in which ions are transported across a membrane such that the cardiac muscle cell plasma membrane potential changes in the direction from the positive membrane potential at the peak of the action potential towards the negative resting potential. |
| membrane repolarization during ventricular cardiac muscle cell action potential | The process in which ions are transported across a membrane such that the ventricular cardiomyocyte membrane potential changes in the direction from the positive membrane potential at the peak of the action potential towards the negative resting potential. |
| potassium ion export across plasma membrane | The directed movement of potassium ions from inside of a cell, across the plasma membrane and into the extracellular region. |
| potassium ion transmembrane transport | A process in which a potassium ion is transported from one side of a membrane to the other. |
| potassium ion transport | The directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| protein homooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| regulation of heart rate by cardiac conduction | A cardiac conduction process that modulates the frequency or rate of heart contraction. |
| regulation of ion transmembrane transport | Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. |
| ventricular cardiac muscle cell membrane repolarization | The process in which ions are transported across the plasma membrane of a ventricular cardiac muscle cell such that the membrane potential changes in the repolarizing direction, toward the steady state potential. For example, the repolarization during an action potential is from a positive membrane potential towards a negative resting potential. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P22459 | KCNA4 | Potassium voltage-gated channel subfamily A member 4 | Homo sapiens (Human) | PR |
| P22001 | KCNA3 | Potassium voltage-gated channel subfamily A member 3 | Homo sapiens (Human) | PR |
| Q16322 | KCNA10 | Potassium voltage-gated channel subfamily A member 10 | Homo sapiens (Human) | PR |
| P16389 | KCNA2 | Potassium voltage-gated channel subfamily A member 2 | Homo sapiens (Human) | PR |
| Q96RP8 | KCNA7 | Potassium voltage-gated channel subfamily A member 7 | Homo sapiens (Human) | PR |
| Q09470 | KCNA1 | Potassium voltage-gated channel subfamily A member 1 | Homo sapiens (Human) | PR |
| Q03721 | KCNC4 | Potassium voltage-gated channel subfamily C member 4 | Homo sapiens (Human) | PR |
| Q9ULS6 | KCNS2 | Potassium voltage-gated channel subfamily S member 2 | Homo sapiens (Human) | PR |
| Q14721 | KCNB1 | Potassium voltage-gated channel subfamily B member 1 | Homo sapiens (Human) | PR |
| Q8TDN2 | KCNV2 | Potassium voltage-gated channel subfamily V member 2 | Homo sapiens (Human) | PR |
| Q9H3M0 | KCNF1 | Potassium voltage-gated channel subfamily F member 1 | Homo sapiens (Human) | PR |
| Q92953 | KCNB2 | Potassium voltage-gated channel subfamily B member 2 | Homo sapiens (Human) | PR |
| Q9Z0V1 | Kcnd3 | Potassium voltage-gated channel subfamily D member 3 | Mus musculus (Mouse) | PR |
| Q62897 | Kcnd3 | Potassium voltage-gated channel subfamily D member 3 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAGVAAWLP | FARAAAIGWM | PVANCPMPLA | PADKNKRQDE | LIVLNVSGRR | FQTWRTTLER |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YPDTLLGSTE | KEFFFNEDTK | EYFFDRDPEV | FRCVLNFYRT | GKLHYPRYEC | ISAYDDELAF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YGILPEIIGD | CCYEEYKDRK | RENAERLMDD | NDSENNQESM | PSLSFRQTMW | RAFENPHTST |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LALVFYYVTG | FFIAVSVITN | VVETVPCGTV | PGSKELPCGE | RYSVAFFCLD | TACVMIFTVE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YLLRLFAAPS | RYRFIRSVMS | IIDVVAIMPY | YIGLVMTNNE | DVSGAFVTLR | VFRVFRIFKF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SRHSQGLRIL | GYTLKSCASE | LGFLLFSLTM | AIIIFATVMF | YAEKGSSASK | FTSIPASFWY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TIVTMTTLGY | GDMVPKTIAG | KIFGSICSLS | GVLVIALPVP | VIVSNFSRIY | HQNQRADKRR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AQKKARLARI | RVAKTGSSNA | YLHSKRNGLL | NEALELTGTP | EEEHMGKTTS | LIESQHHHLL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| HCLEKTTGLS | YLVDDPLLSV | RTSTIKNHEF | IDEQMFEQNC | MESSMQNYPS | TRSPSLSSHP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GLTTTCCSRR | SKKTTHLPNS | NLPATRLRSM | QELSTIHIQG | SEQPSLTTSR | SSLNLKADDG |
| 610 | 620 | 630 | 640 | 650 | |
| LRPNCKTSQI | TTAIISIPTP | PALTPEGESR | PPPASPGPNT | NIPSIASNVV | KVSAL |