Variant position: 271 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 714 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 KDTLEFTMASRDACKAFWKT CVEYHAFFRLSEEPKSKPKTL
Mouse KDTLEFTMASRDACKAFWKT CVEYHAFFRLSEEPKSKPKTL
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 – 714 FERM domain-containing protein 7
2 – 282 FERM
A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.
He X.; Gu F.; Wang Y.; Yan J.; Zhang M.; Huang S.; Ma X.;
Mol. Vis. 14:56-60(2008)
Cited for: VARIANT NYS1 PHE-271;
Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus.
Li N.; Wang L.; Cui L.; Zhang L.; Dai S.; Li H.; Chen X.; Zhu L.; Hejtmancik J.F.; Zhao K.;
Mol. Vis. 14:733-738(2008)
Cited for: VARIANTS NYS1 TRP-24; GLN-261 AND PHE-271;
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