Sequence information
Variant position: 154 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:
KFKYGIEEHGKVKMRGGLLR
T YIISILFKSIFEVAFLLIQW
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 KFKYGIEEHGKVKMRGGLLRT YIISILFKSIFEVAFLLIQW
Mouse KFKYGIEEHGKVKMRGGLLRT YIISILFKSVFEVAFLLIQW
Rat KFKYGIEEHGKVKMRGGLLRT YIISILFKSVFEVAFLLIQW
Pig KFKYGIEEHGKVKMRGGLLRT YIISILFKSVFEVAFLLIQW
Bovine KFKYGIEEHGKVKMRGGLLRT YIISILFKSVFEVAFLLIQW
Rabbit KFKYGIEEHGKVKMRGGLLRT YIISILFKSVFEVAFLLIQW
Chicken KFKYGIEEHGKVKMRGGLLRT YIISILFKSVFEVAFLLIQW
Xenopus laevis KFKYGLEEHGKVKMRGGLLRT YIISILFKSVFEVGFIIIQW
Zebrafish KFKHGLEEHGKVKMKGSLLRT YIFSIIFKSICEVVFLVIQW
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
98 – 155
Cytoplasmic
Disulfide bond
54 – 192
Cross
144 – 144
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Helix
153 – 176
Literature citations
Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene.
van Es R.J.J.; Wittebol-Post D.; Beemer F.A.;
Int. J. Oral Maxillofac. Surg. 36:858-860(2007)
Cited for: VARIANT ODDD ALA-154;
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;
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.