Sequence information
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:
HMALVVTAILIQTPWSFTGA
V ILMIAHGLTSSLLFCLANSN
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-WSFTGAV ILMIAHGLTSSLLFCLAN-SN
Gorilla HMALVVAAILIQTP-WSFTGAV VLMIAHGLTSSLLFCLAN-
Chimpanzee HMALVVTAILIQTP-WSFTGAI ILMIAHGLTSSLLSCLAN-
Mouse HMALVIASIMIQTP-WSFMGAT MLMIAHGLTSSLLFCLAN-
Rat HMALVITAIMIQTP-WSFMGAT MLMIAHGLTSSLLFCLAN-
Pig HMALVIVAIMIQTP-WSFMGAT ALMIAHGLTSSMLFCLAN-
Bovine HMALVIVAILIQTP-WSYMGAT ALMIAHGLTSSMLFCLAN-
Rabbit HMALVIVAILIQTP-WSFMGAT ALMIAHGLTSSLLFCLAN-
Sheep HMALVIVAILIQTP-WSYMGAT ALMIAHGLTSSMLFCLAN-
Cat HMALVIVAVLIQTP-WSYMGAT ALMIAHGLTSSMLFCLAN-
Horse HMALVIVAVLIQTP-WSYMGAT ALMIAHGLTSSMLFCLAN-
Chicken HMGLVIAASMIQTQ-WSFSGAM ILMISHGLTSSLLFCLAN-
Xenopus laevis HMGLVISAGNNQTPMKALTGAM ILNTSDGLTHSALCCLAKY
Zebrafish HMGLVAGGILIQTP-WGFTGAI ILMIAHGLTSSALFCLAN-
Caenorhabditis elegans HMSFLLLSLVFITM-SSKISSV MLMLAHGYTSTLMFYLIG-
Drosophila HMGIVLSGLLTMTY-WGLCGSY TLMIAHGLCSSGLFCLAN-
Slime mold HMNVIVLGLFSGVL-QGIEGGI ILMIGHGVVSGGLFLCIG-
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
Chain
1 – 459
NADH-ubiquinone oxidoreductase chain 4
Transmembrane
308 – 330
Helical
Literature citations
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; CHARACTERIZATION OF VARIANT LDYT ILE-313; FUNCTION; CATALYTIC ACTIVITY;
Disclaimer:
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.