Variant position: 1170 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2215 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 NLEKLHFIIGNGILRPALRD EIYCQISKQLTHNPSKSSYAR
Mouse NLEKLHFIIGNGILRPALRD EIYCQISKQLTHNPSKSSYAR
Drosophila NLEKLHFIIGHGILRAELRD EIYCQICKQLTNNPLKSSHAR
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 – 2215 Unconventional myosin-VIIa
1017 – 1253 MyTH4 1
1169 – 1200 DEIYCQISKQLTHNPSKSSYARGWILVSLCVG -> SVPESLLVAEWCLCQPSKRLSQAWPGFGFAAS. In isoform 3 and isoform 4.
Identification of three novel mutations in the MYO7A gene.
Cuevas J.M.; Espinos C.; Millan J.M.; Sanchez F.; Trujillo M.J.; Ayuso C.; Beneyto M.; Najera C.;
Hum. Mutat. 14:181-181(1999)
Cited for: VARIANT USH1B LYS-1170; VARIANT CYS-1719;
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
Najera C.; Beneyto M.; Blanca J.; Aller E.; Fontcuberta A.; Millan J.M.; Ayuso C.;
Hum. Mutat. 20:76-77(2002)
Cited for: VARIANTS USH1B ASP-397; LYS-1170; LYS-1327 AND 1347-ARG--PHE-1351 DEL; VARIANTS MET-1566 AND CYS-1719;
Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
Roux A.-F.; Faugere V.; Le Guedard S.; Pallares-Ruiz N.; Vielle A.; Chambert S.; Marlin S.; Hamel C.; Gilbert B.; Malcolm S.; Claustres M.;
J. Med. Genet. 43:763-768(2006)
Cited for: VARIANTS USH1B ASP-133; ARG-163; ARG-164; MET-165; THR-198; ALA-204; ASP-519; LYS-1170; GLN-1240; PRO-1858; TRP-1873 AND PHE-1962 DEL; VARIANTS MET-1566 AND CYS-1719;
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.