Sequence information
Variant position: 493 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 555 The length of the canonical sequence.
Location on the sequence:
FGILFTLAQGKLTSDYGPKA
G NIFLCVWMFIGIILTALIKS
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 FGILFTLAQGKLTSDYG-PKAG NIFLCVWMFIGIILTALIKS
Mouse LGIFFTLAQGKITTDYNSPEAG NIFLCAWMFVGIILTALIK
Cat FGILFTLAQGKLTTDYS-PKAG NIFLCVWLFLGIILTALIK
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
1 – 555
Feline leukemia virus subgroup C receptor-related protein 1
Transmembrane
491 – 511
Helical
Literature citations
Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1.
Ishiura H.; Fukuda Y.; Mitsui J.; Nakahara Y.; Ahsan B.; Takahashi Y.; Ichikawa Y.; Goto J.; Sakai T.; Tsuji S.;
Neurogenetics 12:117-121(2011)
Cited for: VARIANT PCARP ARG-493;
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.