Variant position: 314 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 503 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 ENVNQCILEMLIAAPDTMSV SLFFMLFLIAKHPNVEEAIIK
Mouse ENVNQCILEMLIAAPDTMSV TLYFMLLLVAEYPEVEAAILK
Rat ENVNQCILEMLIAAPDTMSV TLYVMLLLIAEYPEVETAILK
Bovine ENVNQCILEMLIAAPDTMSV SVFFMLFLIAKHPQVEEAIIR
Rabbit ENVNQCVLEMLIAAPDTMSV SVFFMLFLIAKHPSVEEAIME
Goat ENVNQCILEMLIAAPDTMSV SVFFMLFLIAKHPQVEEAMMR
Sheep ENVNQCILEMLIAAPDTMSV SVFFMLFLIAKHPQVEEAMMR
Horse ENVNQCILEMMIAAPDTLSV TVFFMLCLIAQHPKVEEALMK
Chicken ENVNQCVLEMMIAAPDTLSV TLFIMLILIADDPTVEEKMMR
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.
A dominant variant in DMXL2 is linked to nonsyndromic hearing loss.
Chen D.Y.; Liu X.F.; Lin X.J.; Zhang D.; Chai Y.C.; Yu D.H.; Sun C.L.; Wang X.L.; Zhu W.D.; Chen Y.; Sun L.H.; Wang X.W.; Shi F.X.; Huang Z.W.; Yang T.; Wu H.;
Genet. Med. 19:553-558(2017)
Cited for: VARIANT PRO-314;
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