Sequence information
Variant position: 76 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:
TQQPGCENVCYDKSFPISHV
R FWVLQIIFVSVPTLLYLAHV
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 TQQPGCENVCYDKSFPISHVR FWVLQIIFVSVPTLLYLAHV
Mouse TQQPGCENVCYDKSFPISHVR FWVLQIIFVSVPTLLYLAHV
Rat TQQPGCENVCYDKSFPISHVR FWVLQIIFVSVPTLLYLAHV
Pig TQQPGCENVCYDKSFPISHVR FWVLQIIFVSVPTLLYLAHV
Bovine TQQPGCENVCYDKSFPISHVR FWVLQIIFVSVPTLLYLAHV
Rabbit TQQPGCENVCYDKSFPISHVR FWVLQIIFVSVPTLLYLAHV
Chicken TQQPGCENVCYDKSFPISHVR FWVLQIIFVSVPTLLYLAHV
Xenopus laevis TQQPGCENVCYDKSFPISHVR FWVLQIIFVSTPTLLYLAHV
Zebrafish TQQPGCENVCYDKSFPISHVR FWVLQIIFVSTPTLLYLAHV
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
Chain
2 – 382
Gap junction alpha-1 protein
Topological domain
45 – 76
Extracellular
Disulfide bond
54 – 192
Helix
74 – 84
Literature citations
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;
Disclaimer:
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.