Variant position: 336 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1148 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 SDNFGYNLLTFIILYNNLIP ISLLVTLEVVKYTQALFINWD
Mouse SDNFGYNLLTFIILYNNLIP ISLLVTLEVVKYTQALFINWD
Bovine SDNFGYNLLTFIILYNNLIP ISLLVTLEVVKYTQALFINWD
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 – 1148 Phospholipid-transporting ATPase IB
324 – 345 Helical
Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.
Onat O.E.; Gulsuner S.; Bilguvar K.; Nazli Basak A.; Topaloglu H.; Tan M.; Tan U.; Gunel M.; Ozcelik T.;
Eur. J. Hum. Genet. 21:281-285(2013)
Cited for: TISSUE SPECIFICITY; VARIANT CMARQ4 MET-336;
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