Variant position: 40 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 AGGKVWLSVLFIFRILLLGT AVESAWGDEQSAFRCNTQQPG
Mouse AGGKVWLSVLFIFRILLLGT AVESAWGDEQSAFRCNTQQPG
Rat AGGKVWLSVLFIFRILLLGT AVESAWGDEQSAFRCNTQQPG
Pig AGGKVWLSVLFIFRILLLGT AVESAWGDEQSAFRCNTQQPG
Bovine AGGKVWLSVLFIFRILLLGT AVESAWGDEQSAFRCNTQQPG
Rabbit AGGKVWLSVLFIFRILLLGT AVESAWGDEQSAFRCNTQQPG
Chicken AGGKVWLSVLFIFRILLLGT AVESAWGDEQSAFRCNTQQPG
Xenopus laevis AGGKVWLSVLFIFRILLLGT AVESAWGDEQSAFVCNTQQPG
Zebrafish AGGKVWLSVLFIFRILVLGT AVESAWGDEQSAFKCNTQQPG
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
37 – 76 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;
Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).
Debeer P.; Van Esch H.; Huysmans C.; Pijkels E.; De Smet L.; Van de Ven W.; Devriendt K.; Fryns J.-P.;
Eur. J. Med. Genet. 48:377-387(2005)
Cited for: VARIANTS ODDD VAL-40; ASP-110; THR-147 AND PHE-169 DEL;
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.