Variant position: 211 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 327 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 RGAFERKMSYDWSQFNTLYL RVRGDGRPWMVNIKEDTDFFQ
Gorilla RGAFERKMSYDWSQFNTLYL RVRGDGRPWMVNIKEDTDFFQ
Chimpanzee RGAFERKMSYDWSQFNTLYL RVRGDGRPWMVNIKEDTDFFQ
Mouse RGAFERKLSYDWSQFNTLYL RVRGDGRPWMVNIRQDTEFIQ
Caenorhabditis elegans KAFNRKKFLSKWRNFSHLLL KVRGDGRSYKIMLHSPLSMDF
Drosophila RKSFKRETTYDWTQYNMLVM KVRGDGRSYLINLHTEGYFDL
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
25 – 327 Complex I intermediate-associated protein 30, mitochondrial
Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.
Fassone E.; Taanman J.W.; Hargreaves I.P.; Sebire N.J.; Cleary M.A.; Burch M.; Rahman S.;
J. Med. Genet. 48:691-697(2011)
Cited for: INVOLVEMENT IN MC1DN11; VARIANTS MC1DN11 CYS-211 AND ARG-245;
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.