Variant position: 79 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 266 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 HEVSVPYAMNLLNGIKLYGR PIKIQFRSGSSHAPQDVSLSY
Mouse HEVSVPYAMNLLNGIKLFGR PIKIQFRSGSSHASQDASVSY
Bovine HEVSVPYAMNLLNGIKLFGR PIKIQFRAGSSHASQEVSLSY
Zebrafish HEVSVPYALNLLNGIRLHGR QLNIKFKTGSSHINQEGK---
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
2 – 266 RNA-binding protein 7
10 – 87 RRM
65 – 65 Y -> A. Reduced interaction with ZCCHC8, and impaired interaction with SF3B2/SAP145; when associated with E-69.
69 – 69 L -> E. Reduced interaction with ZCCHC8, and impaired interaction with SF3B2/SAP145; when associated with A-65.
Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.
Giunta M.; Edvardson S.; Xu Y.; Schuelke M.; Gomez-Duran A.; Boczonadi V.; Elpeleg O.; Mueller J.S.; Horvath R.;
Hum. Mol. Genet. 25:2985-2996(2016)
Cited for: VARIANT ARG-79;
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