Variant position: 162 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 360 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 MLLGLMLEAFITGAFVAKIA RPKNRAFSIRFTDTAVVAHMD
Mouse MLLGLMLEAFITGAFVAKIA RPKNRAFSIRFTDLAVVAHKD
Rat MLLGLMLEAFITGAFVAKIA RPKNRAFSIRFTDLAVVAHKD
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 – 360 Inward rectifier potassium channel 13
156 – 360 Cytoplasmic
149 – 149 Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium
95 – 360 Missing. In isoform 2.
Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.
Hejtmancik J.F.; Jiao X.; Li A.; Sergeev Y.V.; Ding X.; Sharma A.K.; Chan C.-C.; Medina I.; Edwards A.O.;
Am. J. Hum. Genet. 82:174-180(2008)
Cited for: VARIANT SVD TRP-162; CHARACTERIZATION OF VARIANT SVD TRP-162;
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.