Variant position: 785 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 960 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 NMVGPDWKKRWLYWKNRTQE QCVHNETKNELEKMLKCNEEH
Mouse NMIGPDWKKRWMYWKNRTQE QCVHNETKNELEKMLKVNDEH
Rat NMIGPDWKKRWIYWKNRTQE QCVHNETKNELEKMLKVNDEH
Chicken DMVGPDWKKRWLYWISRTKE QNIRNETKNELEKLIKCNEEH
Zebrafish DMVGPDWKQRWMSWKNRTPE QHTRNETKNELERLLKLHEDH
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
88 – 960 Dynamin-like 120 kDa protein, mitochondrial
195 – 960 Dynamin-like 120 kDa protein, form S1
114 – 960 Mitochondrial intermembrane
Mutation spectrum and splicing variants in the OPA1 gene.
Delettre C.; Griffoin J.-M.; Kaplan J.; Dollfus H.; Lorenz B.; Faivre L.; Lenaers G.; Belenguer P.; Hamel C.P.;
Hum. Genet. 109:584-591(2001)
Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2); ALTERNATIVE SPLICING; TISSUE SPECIFICITY; VARIANTS OPA1 GLN-290; ARG-785 AND PRO-939;
OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation.
Ban T.; Heymann J.A.; Song Z.; Hinshaw J.E.; Chan D.C.;
Hum. Mol. Genet. 19:2113-2122(2010)
Cited for: FUNCTION; CATALYTIC ACTIVITY; SUBUNIT; CHARACTERIZATION OF VARIANTS OPA1 GLU-300; VAL-439; HIS-445; ARG-545; LYS-728; ARG-785 AND PRO-939; CHARACTERIZATION OF VARIANTS VARIANT DOA+ THR-357; VAL-439; HIS-445; ARG-545 AND ASP-910;
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.
Pesch U.E.A.; Leo-Kottler B.; Mayer S.; Jurklies B.; Kellner U.; Apfelstedt-Sylla E.; Zrenner E.; Alexander C.; Wissinger B.;
Hum. Mol. Genet. 10:1359-1368(2001)
Cited for: VARIANTS OPA1 LYS-270; ALA-273; GLN-290; TRP-290; VAL-438; GLU-468; CYS-551 DEL AND ARG-785; VARIANTS ASN-158; VAL-192 AND ASN-550;
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.