Variant position: 456 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:
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 WSFLFSLILIVIMFLWRPSA NNQRYAFMPLIDDSDDEIEEF
Mouse WSFLFSVILIVIMFLWRPSA NNQRYAFMPLIDDSDDEVEEF
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
43 – 555 Transmembrane protein 87B
451 – 555 Cytoplasmic
469 – 469 Phosphoserine
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy.
Yu H.C.; Coughlin C.R.; Geiger E.A.; Salvador B.J.; Elias E.R.; Cavanaugh J.L.; Chatfield K.C.; Miyamoto S.D.; Shaikh T.H.;
Cold Spring Harb. Mol. Case Stud. 2:A000844-A000844(2016)
Cited for: VARIANT ASP-456;
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