Variant position: 313 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 459 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 HMALVVTAILIQTP-WSFTGA VILMIAHGLTSSLLFCLAN-SN
Gorilla HMALVVAAILIQTP-WSFTGA VVLMIAHGLTSSLLFCLAN-
Chimpanzee HMALVVTAILIQTP-WSFTGA IILMIAHGLTSSLLSCLAN-
Mouse HMALVIASIMIQTP-WSFMGA TMLMIAHGLTSSLLFCLAN-
Rat HMALVITAIMIQTP-WSFMGA TMLMIAHGLTSSLLFCLAN-
Pig HMALVIVAIMIQTP-WSFMGA TALMIAHGLTSSMLFCLAN-
Bovine HMALVIVAILIQTP-WSYMGA TALMIAHGLTSSMLFCLAN-
Rabbit HMALVIVAILIQTP-WSFMGA TALMIAHGLTSSLLFCLAN-
Sheep HMALVIVAILIQTP-WSYMGA TALMIAHGLTSSMLFCLAN-
Cat HMALVIVAVLIQTP-WSYMGA TALMIAHGLTSSMLFCLAN-
Horse HMALVIVAVLIQTP-WSYMGA TALMIAHGLTSSMLFCLAN-
Chicken HMGLVIAASMIQTQ-WSFSGA MILMISHGLTSSLLFCLAN-
Xenopus laevis HMGLVISAGNNQTPMKALTGA MILNTSDGLTHSALCCLAKY
Zebrafish HMGLVAGGILIQTP-WGFTGA IILMIAHGLTSSALFCLAN-
Caenorhabditis elegans HMSFLLLSLVFITM-SSKISS VMLMLAHGYTSTLMFYLIG-
Drosophila HMGIVLSGLLTMTY-WGLCGS YTLMIAHGLCSSGLFCLAN-
Slime mold HMNVIVLGLFSGVL-QGIEGG IILMIGHGVVSGGLFLCIG-
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 – 459 NADH-ubiquinone oxidoreductase chain 4
308 – 330 Helical
Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.
de Vries D.D.; Went L.N.; Bruyn G.W.; Scholte H.R.; Hofstra R.M.W.; Bolhuis P.A.; van Oost B.A.;
Am. J. Hum. Genet. 58:703-711(1996)
Cited for: VARIANT LDYT ILE-313;
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.