Variant position: 241 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 727 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 NIIDICPVGALTSKPYAFTA RPWETRKTESIDVMDAVGSNI
Gorilla NIIDICPVGALTSKPYAFTA RPWETRKTESIDVMDAVGSNI
Chimpanzee NIIDICPVGALTSKPYAFTA RPWETRKTESIDVMDAVGSNI
Mouse NVIDICPVGALTSKPYAFTA RPWETRKTESIDVMDAVGSNI
Rat NIIDICPVGALTSKPYAFTA RPWETRKTESIDVMDAVGSNI
Bovine NIIDICPVGALTSKPYAFTA RPWETRKTESIDVMDAVGSNI
Drosophila NVIDLCPVGALTNKPYSFVA RPWEIRKVSSIDVLDAVGSNI
Slime mold NIIDLCPVGALTSAVYAYKG RPWELKNIKGIDIFDTLLTPI
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
24 – 727 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
226 – 226 Iron-sulfur 3 (4Fe-4S)
Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.
Benit P.; Chretien D.; Kadhom N.; de Lonlay-Debeney P.; Cormier-Daire V.; Cabral A.; Peudenier S.; Rustin P.; Munnich A.; Roetig A.;
Am. J. Hum. Genet. 68:1344-1352(2001)
Cited for: INVOLVEMENT IN MC1DN5; VARIANTS MC1DN5 TRP-241 AND GLY-252;
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.