Variant position: 39 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 133 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 MGDTDSKTDSSFIMDSDPRR CMRHHYVDSISHPLYKCSSKM
Mouse MGDTDSKTDSSFLMDS--QR CMRHHYVDSISHPLYKCSSKM
Bovine MGDTDSKTESSFMMDSDPQR CMRHHYVDSISHPLYKCSSKM
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.
Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene.
Joos K.M.; Kimura A.E.; Vandenburgh K.; Bartley J.A.; Stone E.M.;
Arch. Ophthalmol. 112:1574-1579(1994)
Cited for: VARIANT ND ARG-39;
Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.
Wu W.-C.; Drenser K.; Trese M.; Capone A. Jr.; Dailey W.;
Arch. Ophthalmol. 125:225-230(2007)
Cited for: VARIANTS EVR2 ARG-42; ILE-61 AND TRP-121; VARIANTS ND ARG-39 AND TYR-65; VARIANT PERSISTENT FETAL VASCULATURE SYNDROME SER-41;
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.