Variant position: 227 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 TIFIIFMLVVSLVSLALNII ELFYVFFKGVKDRVKGKSDPY
Mouse TIFIIFMLVVSLVSLALNII ELFYVFFKGVKDRVKGRSDPY
Rat TIFIIFMLVVSLVSLALNII ELFYVFFKGVKDRVKGRSDPY
Pig TIFIIFMLVVSLVSLALNII ELFYAFFKGVKDRVKGKSDPY
Bovine TIFIIFMLVVSLVSLALNII ELFYVFFKGVKDRVKGKSDPY
Rabbit TIFIIFMLVVSLVSLALNII ELFYVFFKGVKDRVKGKSDPY
Chicken TIFIVFMLVVSLVSLALNII ELFYVFFKGVKDRVKGKTDPY
Xenopus laevis TIFIWFMLIVSIVSLALNII ELFYVTYKSIKDGIKGKKDPF
Zebrafish TIFIIFMLVVSLFSLLLNII ELFYVLFKRIKDRVKSRQNTQ
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
209 – 231 Helical
247 – 247 Phosphotyrosine
237 – 237 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Dominant de novo mutations in GJA1 cause erythrokeratodermia variabilis et progressiva, without features of oculodentodigital dysplasia.
Boyden L.M.; Craiglow B.G.; Zhou J.; Hu R.; Loring E.C.; Morel K.D.; Lauren C.T.; Lifton R.P.; Bilguvar K.; Paller A.S.; Choate K.A.;
J. Invest. Dermatol. 135:1540-1547(2015)
Cited for: INVOLVEMENT IN EKVP3; VARIANTS EKVP3 VAL-44 AND ASP-227; CHARACTERIZATION OF VARIANTS EKVP3 VAL-44 AND ASP-227; SUBCELLULAR LOCATION;
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.