Variant position: 246 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 300 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 HWHYRDLEAMARITGAEPIF IDANFQ-STVPGGP----------IGGQTRVT
Mouse HWYYRDLEAMAKITGADPIF IDADFH-STAPGGP-------
Rat LWYYRDLDAMAKRTGTDPIF IDADFN-STTPGGP-------
Chicken RWHYRDLEAMAKVTGAEPIF IDADFR-STVPGGP-------
Xenopus tropicalis LWHYKDLSAMAQVVGAEPIL IDADRG-STVPGGP-------
Caenorhabditis elegans VWYYRDLNQMAKHYGTEPVL LDAAYE-TTVPGGP-------
Drosophila VYLYRDLARMCAATGAAPVF LDAVYDPQTAAHAP-------
Slime mold QWYSLDVDAMADQLNTEPLM INTMDE-TEINSKPSSLPNPQ
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 – 300 Surfeit locus protein 1
Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.
Poyau A.; Buchet K.; Bouzidi M.F.; Zabot M.-T.; Echenne B.; Yao J.; Shoubridge E.A.; Godinot C.;
Hum. Genet. 106:194-205(2000)
Cited for: VARIANTS LS GLU-124 AND THR-246; VARIANT HIS-202;
Pathogenicity of missense mutations in SURF1 deficiency inducing the Leigh syndrome. Importance in diagnosis.
Dubot A.; Hervouet E.; Mandon G.; Zabot M.T.; Godinot C.;
Cited for: DEVELOPMENTAL STAGE; VARIANTS LS GLU-124 AND THR-246; VARIANT HIS-202; CHARACTERIZATION OF VARIANTS LS GLU-124 AND THR-246; CHARACTERIZATION OF VARIANT HIS-202;
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.