Variant position: 24 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 LKVQFLDDSQKIFVVDQKSS GKALFNLSCSHLNLAEKEYFG
Mouse LKVQFLDDSQKIFVVDQKSS GKALFNLSCGHLNLAEKEYFG
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
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.
Tarpey P.; Thomas S.; Sarvananthan N.; Mallya U.; Lisgo S.; Talbot C.J.; Roberts E.O.; Awan M.; Surendran M.; McLean R.J.; Reinecke R.D.; Langmann A.; Lindner S.; Koch M.; Jain S.; Woodruff G.; Gale R.P.; Degg C.; Droutsas K.; Asproudis I.; Zubcov A.A.; Pieh C.; Veal C.D.; Machado R.D.; Backhouse O.C.; Baumber L.; Constantinescu C.S.; Brodsky M.C.; Hunter D.G.; Hertle R.W.; Read R.J.; Edkins S.; O'meara S.; Parker A.; Stevens C.; Teague J.; Wooster R.; Futreal P.A.; Trembath R.C.; Stratton M.R.; Raymond F.L.; Gottlob I.;
Nat. Genet. 38:1242-1244(2006)
Cited for: INVOLVEMENT IN NYS1; VARIANTS NYS1 ARG-24; GLU-24; ARG-142; ASP-221; THR-226; VAL-231; PRO-266; TYR-271; CYS-301 AND LEU-340; TISSUE SPECIFICITY; FUNCTION; DEVELOPMENTAL STAGE;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.