Variant position: 660 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1848 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 LHLLMETLNATTPHYVRCIK PNDEKLPFHFDPKRAVQQLRA
Mouse LNLLMETLNATTPHYVRCIK PNDEKLPFHFDPKRAVQQLRA
Rat LNLLMETLNATTPHYVRCIK PNDEKLPFHFDPKRAVQQLRA
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 – 1848 Unconventional myosin-Vb
69 – 761 Myosin motor
640 – 662 Actin-binding
1 – 1430 Missing. In isoform 3.
1 – 859 Missing. In isoform 2.
Functional characterization of mutations in the myosin Vb gene associated with microvillus inclusion disease.
Szperl A.M.; Golachowska M.R.; Bruinenberg M.; Prekeris R.; Thunnissen A.M.; Karrenbeld A.; Dijkstra G.; Hoekstra D.; Mercer D.; Ksiazyk J.; Wijmenga C.; Wapenaar M.C.; Rings E.H.; van Ijzendoorn S.C.;
J. Pediatr. Gastroenterol. Nutr. 52:307-313(2011)
Cited for: FUNCTION; VARIANTS DIAR2 ARG-316; SER-456; ARG-514 AND LEU-660; VARIANT VAL-1688;
Navajo microvillous inclusion disease is due to a mutation in MYO5B.
Erickson R.P.; Larson-Thome K.; Valenzuela R.K.; Whitaker S.E.; Shub M.D.;
Am. J. Med. Genet. A 146A:3117-3119(2008)
Cited for: VARIANT DIAR2 LEU-660;
Myosin Vb uncoupling from RAB8A and RAB11A elicits microvillus inclusion disease.
Knowles B.C.; Roland J.T.; Krishnan M.; Tyska M.J.; Lapierre L.A.; Dickman P.S.; Goldenring J.R.; Shub M.D.;
J. Clin. Invest. 124:2947-2962(2014)
Cited for: VARIANT DIAR2 LEU-660; CHARACTERIZATION OF VARIANT DIAR2 LEU-660;
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