Variant position: 273 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 279 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 LYSSESEDRNAGVILAPLQR NTAEAKT-----
Mouse LYNTESEGRNAGVTLAPLQR NAAEAKH
Bovine LYSSESEERNVGVVLAPLQR NTTEVKA
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 – 279 Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1
268 – 274
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
Koenekoop R.K.; Wang H.; Majewski J.; Wang X.; Lopez I.; Ren H.; Chen Y.; Li Y.; Fishman G.A.; Genead M.; Schwartzentruber J.; Solanki N.; Traboulsi E.I.; Cheng J.; Logan C.V.; McKibbin M.; Hayward B.E.; Parry D.A.; Johnson C.A.; Nageeb M.; Poulter J.A.; Mohamed M.D.; Jafri H.; Rashid Y.; Taylor G.R.; Keser V.; Mardon G.; Xu H.; Inglehearn C.F.; Fu Q.; Toomes C.; Chen R.;
Nat. Genet. 44:1035-1039(2012)
Cited for: SUBCELLULAR LOCATION; VARIANTS LCA9 THR-13; PHE-67; GLY-98; PHE-151; TRP-207; LEU-237; LYS-257 AND ASP-273; CHARACTERIZATION OF VARIANTS LCA9 TRP-207; LYS-257 AND ASP-273;
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
Chiang P.W.; Wang J.; Chen Y.; Fu Q.; Zhong J.; Chen Y.; Yi X.; Wu R.; Gan H.; Shi Y.; Chen Y.; Barnett C.; Wheaton D.; Day M.; Sutherland J.; Heon E.; Weleber R.G.; Gabriel L.A.; Cong P.; Chuang K.; Ye S.; Sallum J.M.; Qi M.;
Nat. Genet. 44:972-974(2012)
Cited for: VARIANTS LCA9 THR-35; GLY-98; PHE-151; VAL-153; LYS-257 AND ASP-273;
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.