Variant position: 202 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 382 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human SAVYTCKRDPCPHQVDCFLS RPTEKTIFIIFMLVVSLVSLA
Mouse SAVYTCKRDPCPHQVDCFLS RPTEKTIFIIFMLVVSLVSLA
Rat SAVYTCKRDPCPHQVDCFLS RPTEKTIFIIFMLVVSLVSLA
Pig SAVYTCKRDPCPHQVDCFLS RPTEKTIFIIFMLVVSLVSLA
Bovine SAVYTCKRDPCPHQVDCFLS RPTEKTIFIIFMLVVSLVSLA
Rabbit SAVYTCKRDPCPHQVDCFLS RPTEKTIFIIFMLVVSLVSLA
Chicken SAIYTCERDPCPHRVDCFLS RPTEKTIFIVFMLVVSLVSLA
Xenopus laevis SAIYTCKRDPCPHQVDCFLS RPTEKTIFIWFMLIVSIVSLA
Zebrafish SAVYTCERTPCPHRVDCFLS RPTEKTIFIIFMLVVSLFSLL
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 382 Gap junction alpha-1 protein
178 – 208 Extracellular
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
Paznekas W.A.; Boyadjiev S.A.; Shapiro R.E.; Daniels O.; Wollnik B.; Keegan C.E.; Innis J.W.; Dinulos M.B.; Christian C.; Hannibal M.C.; Jabs E.W.;
Am. J. Hum. Genet. 72:408-418(2003)
Cited for: NON-ASSOCIATION WITH NON-SYNDROMIC AUTOSOMAL RECESSIVE DEAFNESS; VARIANTS ODDD SER-17; PRO-18; ARG-21; GLU-22; THR-23; VAL-40; LYS-49; PHE-52 INS; SER-76; VAL-90; CYS-98; ASN-102; THR-130; GLU-134; ARG-138; HIS-202 AND LEU-216; VARIANT VAL-253;
Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly.
Richardson R.R.; Donnai D.; Meire F.; Dixon M.J.;
J. Med. Genet. 41:60-67(2004)
Cited for: VARIANTS ODDD PRO-27; MET-31; VAL-40; TYR-69; PRO-113; ASN-134; GLN-148 AND HIS-202; VARIANT SDTY3 SER-143;
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
Paznekas W.A.; Karczeski B.; Vermeer S.; Lowry R.B.; Delatycki M.; Laurence F.; Koivisto P.A.; Van Maldergem L.; Boyadjiev S.A.; Bodurtha J.N.; Jabs E.W.;
Hum. Mutat. 30:724-733(2009)
Cited for: VARIANTS ODDD VAL-7; VAL-40; PRO-49; GLN-49 INS; ALA-96; PRO-106; ALA-154; PHE-201 AND HIS-202;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.