Variant position: 247 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 433 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 LGLKGIRSALKRPVEQPLGE IPEKSLHSIAVSSIQKAKGYQ
Mouse LGMKGIRSAFKRPVEQPLGE IAEKSLHSIAVSSIQKAKGYQ
Rat LGMKGIRSAFKRPAEQPLGE IAEKSLHSIAVSSIQKAKGYQ
Sheep LGLKKIRSAFKRPVEQPLGE IPEKSLHSIAVSSIQKAKGYQ
Chicken LILKRIRRALRRPAEEQMGE VPEKPLHAIAVSSIPKAKGYK
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
2 – 433 Gap junction alpha-8 protein
225 – 433 Cytoplasmic
Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract.
Polyakov A.V.; Shagina I.A.; Khlebnikova O.V.; Evgrafov O.V.;
Clin. Genet. 60:476-478(2001)
Cited for: VARIANT MET-247; INVOLVEMENT IN CTRCT1;
The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation.
Graw J.; Schmidt W.; Minogue P.J.; Rodriguez J.; Tong J.J.; Klopp N.; Illig T.; Ebihara L.; Berthoud V.M.; Beyer E.C.;
Mol. Vis. 15:1881-1885(2009)
Cited for: VARIANT MET-247; CHARACTERIZATION OF VARIANT MET-247; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
Reis L.M.; Tyler R.C.; Muheisen S.; Raggio V.; Salviati L.; Han D.P.; Costakos D.; Yonath H.; Hall S.; Power P.; Semina E.V.;
Hum. Genet. 132:761-770(2013)
Cited for: VARIANTS CTRCT1 GLY-67 AND CYS-76; VARIANT MET-247;
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.