Sequence information
Variant position: 447 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 580 The length of the canonical sequence.
Location on the sequence:
RFCCCVAVIYLGYCFCGWIV
L GPYHVKFRSLSMVSECLFSL
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 RFCCCVAVIYLGYCFCGWIVL GPYHVKFRSLSMVSECLFSL
Mouse RFCCCVAVIYLGYCFCGWIVL GPYHVKFRSLSMVSECLFSL
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 – 580
Mucolipin-1
Transmembrane
428 – 448
Helical; Name=5
Mutagenesis
432 – 432
V -> P. Mediates localization to the plasma membrane and strong inwardly rectifying current.
Helix
417 – 447
Literature citations
The neurogenetics of mucolipidosis type IV.
Altarescu G.; Sun M.; Moore D.F.; Smith J.A.; Wiggs E.A.; Solomon B.I.; Patronas N.J.; Frei K.P.; Gupta S.; Kaneski C.R.; Quarrell O.W.; Slaugenhaupt S.A.; Goldin E.; Schiffmann R.;
Neurology 59:306-313(2002)
Cited for: VARIANTS ML4 PRO-106; TYR-362; PHE-408 DEL AND PRO-447;
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.