Sequence information
Variant position: 104 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 145 The length of the canonical sequence.
Location on the sequence:
PEWHRWLHSMTDDPPTTKPL
T ARKFIWTNHKFNVTGTPEQY
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 PEWHRWLHSMTDDPPTTKPLT ARKFIWTNHKFNVTGTPEQY
Gorilla PEWHRWLHSMTDDPPTTKPLT ARKFIWTNHKFNMTGTPEQY
Chimpanzee PEWHRWLHSMTDDPPTTKPLT ARKFIWTNHKFNVTGTPEQY
Mouse PEWHRWLHCMTDDPPTTNPPT ARKFIWTNHKFNVSATPEQY
Bovine PEWHRWLHCMTDDPPTVKPPT ARKFIWTNHKFNLSGTPQQY
Caenorhabditis elegans PEWHSWLHHITDDAPSVKPPP TQDWVLEHKENTSIYADKKY
Slime mold PEYHSWIHHVSDKLPSEMLPF SPTYK-RPHIANPTGTDGAY
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 – 145
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12
Alternative sequence
58 – 145
RHRWVVYTTEMNGKNTFWDVDGSMVPPEWHRWLHSMTDDPPTTKPLTARKFIWTNHKFNVTGTPEQYVPYSTTRKKIQEWIPPSTPYK -> IVGFTV. In isoform 2.
Literature citations
Cloning of human full-length CDSs in BD Creator(TM) system donor vector.
Kalnine N.; Chen X.; Rolfs A.; Halleck A.; Hines L.; Eisenstein S.; Koundinya M.; Raphael J.; Moreira D.; Kelley T.; LaBaer J.; Lin Y.; Phelan M.; Farmer A.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ALA-104;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ALA-104;
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.