P26998
PR
Gene name |
CRYBB3 (CRYB3) |
Protein name |
Beta-crystallin B3 |
Names |
Beta-B3 crystallin |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1417 |
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
2 structures for P26998
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3QK3 | X-ray | 195 A | A/B/C | 21-199 | PDB |
| AF-P26998-F1 | Predicted | AlphaFoldDB |
235 variants for P26998
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
COSM1032787 RCV000408402 rs367616021 CA10157641 |
9 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium Cataract 22 multiple types [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000642352 RCV001427339 RCV002523210 rs147831812 CA10157643 RCV000305024 |
13 | A>G | Cataract 22 multiple types Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002290009 rs1232309133 RCV000762052 CA410984010 |
39 | C>F | Cataract 22 multiple types [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs145770544 CA10157677 RCV002557201 RCV001148981 |
42 | S>L | Cataract 22 multiple types Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001148982 rs780319207 CA10157680 |
46 | P>S | Cataract 22 multiple types [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_084792 CA10157715 RCV001148984 COSM280137 rs183587921 |
75 | R>H | large_intestine Cataract 22 multiple types CTRCT22; unknown pathological significance [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs183587921 CA10157716 RCV001150493 |
75 | R>L | Cataract 22 multiple types [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001150494 CA10157720 RCV002557240 rs200457939 |
79 | F>I | Cataract 22 multiple types Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001300364 rs138167578 CA10157729 |
88 | R>H | Cataract 22 multiple types [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10157741 RCV000245140 rs17670506 VAR_025277 RCV000263766 RCV000548899 RCV001675726 |
105 | R>Q | Cataract 22 multiple types [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000365647 CA10157740 rs376115617 |
105 | R>W | Cataract 22 multiple types [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs9608378 RCV000840122 RCV000250899 RCV000318939 VAR_025278 RCV001520886 CA10157770 |
113 | H>D | Cataract 22 multiple types [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10157775 RCV000373553 rs200985752 |
127 | R>C | Cataract 22 multiple types [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000815471 rs200584818 CA10157776 |
127 | R>H | Cataract 22 multiple types [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs375275387 RCV002559393 CA10157797 COSM1535042 RCV001144410 |
152 | R>C | lung Cataract 22 multiple types Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1203386884 RCV000997887 CA410985487 RCV000642351 |
156 | G>R | Cataract 22 multiple types [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs4455261 RCV000528718 CA10157822 VAR_025279 |
159 | V>I | Cataract 22 multiple types [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs74315490 CA278142 RCV000203352 RCV000018457 VAR_025280 |
165 | G>R | Variant assessed as Somatic; 0.0 impact. Cataract 22 multiple types Developmental cataract CTRCT22 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001297053 rs1935047601 |
168 | G>E | Cataract 22 multiple types [ClinVar] | Yes |
ClinVar dbSNP |
|
rs755475309 CA10157831 RCV001146307 |
169 | R>C | Cataract 22 multiple types [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1415300 rs374984300 RCV000334015 CA10157832 |
169 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine Cataract 22 multiple types [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001146308 rs200791666 CA322727691 |
175 | R>Q | Cataract 22 multiple types [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
rs201027853 CA10157839 RCV001146309 |
177 | E>D | Cataract 22 multiple types [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs149232677 RCV001146310 CA10157842 |
179 | R>H | Cataract 22 multiple types [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs147328317 CA10157846 RCV000553645 |
183 | E>* | Cataract 22 multiple types [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA215021 VAR_070031 RCV000132765 rs587777601 |
194 | V>E | Cataract 22 multiple types CTRCT22 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs147937174 CA10157856 RCV000294053 |
195 | R>H | Cataract 22 multiple types [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10157864 RCV002523211 RCV000349094 rs142897070 |
201 | K>N | Cataract 22 multiple types Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10157867 RCV001149103 rs752618205 |
205 | R>W | Cataract 22 multiple types [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs151051126 CA10157871 RCV001149104 RCV002557208 |
207 | R>H | Cataract 22 multiple types Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA278811 RCV000203319 rs864309700 |
212 | S>R | Developmental cataract [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs764517889 CA10157629 |
2 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM243860 rs751977829 CA10157630 |
2 | A>V | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA410983691 rs755555776 |
3 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139163387 CA10157633 |
3 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780980241 CA10157632 |
3 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264094293 CA410983703 |
5 | H>D | No |
ClinGen gnomAD |
|
|
CA10157635 rs779636937 |
5 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10157637 rs768642748 |
6 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410983717 rs1473071551 |
7 | A>V | No |
ClinGen gnomAD |
|
|
rs747920787 CA10157639 |
8 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs367616021 CA322722661 |
9 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1359445455 CA410983730 |
10 | Q>K | No |
ClinGen gnomAD |
|
|
rs759853170 CA10157642 |
11 | A>G | No |
ClinGen ExAC TOPMed |
|
|
rs983420425 CA410983758 |
14 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA322722669 rs983420425 |
14 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs980800215 CA322722672 |
16 | S>N | No |
ClinGen Ensembl |
|
|
rs1342837542 CA410983772 |
16 | S>R | No |
ClinGen gnomAD |
|
|
rs775674447 CA10157644 |
18 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs763306632 CA410983793 |
19 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs764711964 CA10157646 |
20 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 20 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410983805 rs1449797708 |
21 | G>V | No |
ClinGen TOPMed |
|
|
rs755647925 CA10157647 |
22 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs762265757 CA410983823 |
24 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762265757 CA10157648 |
24 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10157650 rs749992336 |
25 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768925777 CA10157665 |
26 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10157666 rs377149754 |
27 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369309849 CA10157668 |
30 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs142996620 CA10157669 CA10157670 |
32 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410983945 rs1178394004 |
33 | N>S | No |
ClinGen TOPMed |
|
|
rs1555887106 CA410983982 |
36 | G>D | No |
ClinGen Ensembl |
|
|
rs1005798300 CA322723347 |
38 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs753497267 CA10157672 |
38 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA10157673 rs754451468 |
39 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1415299 rs1232309133 CA410984012 |
39 | C>Y | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA10157675 rs752584555 |
40 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758366876 CA10157676 |
41 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA322723386 rs961603147 |
43 | A>T | No |
ClinGen Ensembl |
|
|
rs1211062451 CA410984053 |
43 | A>V | No |
ClinGen gnomAD |
|
|
CA410984061 rs144782592 |
44 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10157679 rs144782592 |
44 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1382293062 CA410984088 |
46 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA410984094 rs1377207398 |
47 | S>G | No |
ClinGen TOPMed |
|
|
CA410984103 rs1383581734 |
47 | S>R | No |
ClinGen gnomAD |
|
|
CA10157681 rs749562637 |
50 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1226013809 CA410984126 |
50 | D>N | No |
ClinGen TOPMed |
|
|
rs1338778224 CA410984144 |
51 | S>N | No |
ClinGen TOPMed |
|
|
rs1344322989 CA410984153 |
52 | L>M | No |
ClinGen gnomAD |
|
|
CA410984173 rs1421207683 |
54 | E>Q | No |
ClinGen TOPMed |
|
|
rs774602056 CA10157684 |
55 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs748596890 CA10157685 |
56 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748596890 CA410984196 |
56 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410984206 rs1295329467 |
57 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA410984246 rs1404555231 |
61 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1301136012 CA410984250 |
62 | E>Q | No |
ClinGen gnomAD |
|
|
rs772718550 CA10157686 |
63 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10157688 rs761093453 |
64 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA322723469 rs990563364 COSM4164905 |
65 | P>L | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA322724140 rs938733733 |
67 | L>Q | No |
ClinGen Ensembl |
|
|
rs776894567 CA410984297 |
68 | A>G | No |
ClinGen ExAC TOPMed |
|
|
CA10157707 rs144697511 |
68 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144697511 CA10157708 |
68 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776894567 CA10157709 |
68 | A>V | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 69 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10157710 rs759124927 |
71 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1171103670 CA410984319 |
72 | R>G | No |
ClinGen TOPMed |
|
|
CA10157713 rs775185175 |
74 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141617094 CA10157714 |
75 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs767272833 CA10157718 |
76 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410984371 rs753007977 |
80 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs753007977 CA10157722 |
80 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs373102556 CA10157723 |
81 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA410984383 rs747513628 |
82 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10157725 rs747513628 |
82 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs999200147 CA322724291 |
83 | K>N | No |
ClinGen gnomAD |
|
|
CA10157726 rs771347586 |
84 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 85 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1471516 CA10157728 rs781479810 |
88 | R>C | prostate Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA410984422 rs138167578 |
88 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA322724323 rs138167578 |
88 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775096922 CA10157731 |
89 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1250184223 CA410984428 |
89 | W>* | No |
ClinGen Ensembl |
|
|
rs768166313 CA10157733 |
91 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200104890 CA10157735 |
94 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs534724280 CA10157736 |
96 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs113872601 CA10157737 |
96 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA322724370 rs953624839 |
97 | D>H | No |
ClinGen Ensembl |
|
|
rs1390781593 CA410984506 |
100 | S>I | No |
ClinGen gnomAD |
|
|
rs1346019457 CA410984503 |
100 | S>R | No |
ClinGen gnomAD |
|
|
rs1176847025 CA410984508 |
100 | S>R | No |
ClinGen gnomAD |
|
|
CA410984513 rs1298628684 |
101 | L>P | No |
ClinGen TOPMed |
|
|
CA10157738 rs760515602 |
103 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA10157739 rs766325634 |
104 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA410984557 rs1334775236 |
109 | I>V | No |
ClinGen TOPMed |
|
|
rs370333197 RCV000424656 CA10157769 |
110 | D>G | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs973551612 CA322725547 |
112 | P>L | No |
ClinGen TOPMed |
|
|
rs9608378 CA322725549 |
113 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771658858 CA10157771 |
113 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164892595 CA410984693 |
113 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA410984701 rs1475032054 |
114 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA410984705 rs1601408505 |
114 | H>P | No |
ClinGen Ensembl |
|
|
rs1393590216 CA410984733 |
117 | H>N | No |
ClinGen TOPMed |
|
|
CA410984740 rs1415330994 |
117 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA322725559 rs950366586 |
117 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1400523000 CA410984760 |
119 | F>L | No |
ClinGen TOPMed |
|
|
CA10157772 rs550657041 |
119 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410984780 rs1601408534 |
121 | N>T | No |
ClinGen Ensembl |
|
|
CA322725585 rs200985752 |
127 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410984848 rs200584818 |
127 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10157777 rs200584818 |
127 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1569009241 CA410984852 |
128 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 129 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410984871 rs769670914 |
129 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769670914 CA10157778 |
129 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10157779 rs774418603 |
130 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA410984889 rs1268865866 |
130 | E>V | No |
ClinGen gnomAD |
|
|
CA10157780 rs199791142 |
131 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373826347 CA322725619 |
131 | I>V | No |
ClinGen ESP |
|
|
CA410984917 rs1218584541 |
133 | D>E | No |
ClinGen gnomAD |
|
|
CA322725658 rs1044692706 |
133 | D>N | No |
ClinGen gnomAD |
|
|
CA410984915 rs1357513131 |
133 | D>V | No |
ClinGen gnomAD |
|
|
CA10157781 rs767547759 |
134 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 134 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 135 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs936212789 CA322725666 |
136 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs141765509 CA10157783 |
137 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 138 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1046836157 CA322725674 |
138 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA410985308 rs1343231514 |
139 | L>P | No |
ClinGen TOPMed |
|
|
CA322725689 rs888316997 |
140 | W>* | No |
ClinGen TOPMed |
|
|
rs766864698 CA10157784 |
140 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754405290 CA10157785 |
141 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA10157786 rs755271437 |
141 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs367987690 CA410985334 |
142 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758126252 CA10157789 |
142 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758126252 CA322725729 |
142 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367987690 CA10157788 |
142 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410985371 rs1453524709 |
145 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA410985387 rs1380932754 |
146 | D>G | No |
ClinGen gnomAD |
|
|
CA410985379 rs1314441320 |
146 | D>N | No |
ClinGen gnomAD |
|
|
rs777362003 CA10157790 |
147 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145423394 CA10157791 |
147 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410985400 rs1203112298 |
148 | V>M | No |
ClinGen gnomAD |
|
|
rs534419819 CA10157793 |
149 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1240718613 CA410985432 |
151 | V>A | No |
ClinGen gnomAD |
|
|
rs769430179 CA10157795 |
151 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs375275387 CA10157796 |
152 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141701069 CA10157798 |
152 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10157799 rs141701069 |
152 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1440890137 CA410985475 |
155 | N>S | No |
ClinGen TOPMed |
|
|
rs1432148373 CA410985491 |
156 | G>V | No |
ClinGen gnomAD |
|
|
rs1470582595 CA410985494 |
157 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs375467933 CA10157801 |
157 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10157821 rs765762719 |
158 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA10157823 rs763378955 |
159 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763378955 CA410985556 |
159 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs764603667 CA10157824 |
161 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA10157828 rs74315490 |
165 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780007463 CA10157829 |
167 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10157830 rs199869449 |
167 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199869449 CA410985611 |
167 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374984300 CA410985621 |
169 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10157833 rs747168166 |
170 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1372580190 CA410985631 |
171 | Y>H | No |
ClinGen gnomAD |
|
|
CA410985638 rs1165725062 |
172 | V>M | No |
ClinGen gnomAD |
|
|
CA410985652 rs1308836637 |
174 | E>K | No |
ClinGen TOPMed |
|
|
rs373833533 CA10157836 |
175 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1423813296 CA410985664 |
176 | G>R | No |
ClinGen gnomAD |
|
|
rs373228629 CA10157838 |
177 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764517689 CA10157840 |
178 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA10157841 rs199651680 |
179 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750079699 CA10157844 |
180 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs755626231 CA10157845 |
181 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs371820471 CA322727769 |
184 | W>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs200038978 CA10157848 |
184 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200038978 CA10157847 |
184 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10157851 rs140985147 |
185 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410985725 rs1257350788 |
185 | D>G | No |
ClinGen TOPMed |
|
|
rs778621834 CA10157849 |
185 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1028096414 CA410985729 |
186 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA322727791 rs1028096414 |
186 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA410985753 rs1444097663 |
189 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10157853 rs746125595 |
193 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410985781 rs1231168430 |
194 | V>M | No |
ClinGen TOPMed |
|
|
CA10157855 rs537796250 |
195 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA410985789 rs147937174 |
195 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376466291 CA10157857 |
196 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10157858 rs376466291 |
196 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10157859 rs548308076 |
196 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10157861 rs772868069 |
198 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10157862 rs201949776 |
198 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA10157863 rs765808539 |
199 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1217185436 CA410985813 |
200 | Q>* | No |
ClinGen gnomAD |
|
|
CA10157865 rs759102376 |
202 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA10157866 rs765153929 |
202 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10157868 rs758192679 |
205 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545168492 CA322727931 |
206 | G>C | No |
ClinGen 1000Genomes |
|
|
rs370030346 CA10157869 |
206 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs750619689 CA10157870 |
207 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10157873 rs377319643 |
208 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA410985872 rs1362767663 |
209 | P>L | No |
ClinGen gnomAD |
|
|
rs1024030582 CA322727978 |
210 | S>C | No |
ClinGen TOPMed |
|
|
CA410985874 rs1024030582 |
210 | S>G | No |
ClinGen TOPMed |
1 associated diseases with P26998
[MIM: 609741]: Cataract 22, multiple types (CTRCT22)
An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT22 includes nuclear cataract among others. Nuclear cataracts affect the central nucleus of the eye, and are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders. {ECO:0000269|PubMed:15914629, ECO:0000269|PubMed:19182255, ECO:0000269|PubMed:23508780}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT22 includes nuclear cataract among others. Nuclear cataracts affect the central nucleus of the eye, and are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders. {ECO:0000269|PubMed:15914629, ECO:0000269|PubMed:19182255, ECO:0000269|PubMed:23508780}. Note=The disease is caused by variants affecting the gene represented in this entry.
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| structural constituent of eye lens | The action of a molecule that contributes to the structural integrity of the lens of an eye. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| lens development in camera-type eye | The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAEQHGAPEQ | AAAGKSHGDL | GGSYKVILYE | LENFQGKRCE | LSAECPSLTD | SLLEKVGSIQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VESGPWLAFE | SRAFRGEQFV | LEKGDYPRWD | AWSNSRDSDS | LLSLRPLNID | SPHHKLHLFE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NPAFSGRKME | IVDDDVPSLW | AHGFQDRVAS | VRAINGTWVG | YEFPGYRGRQ | YVFERGEYRH |
| 190 | 200 | 210 | |||
| WNEWDASQPQ | LQSVRRIRDQ | KWHKRGRFPS | S |