Variant position: 102 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 274 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 SSSYLTPMKHMLAASAGEVV ACLIRVPSEVVKQRAQVSAST
Mouse STSHFKPVKHMLAASTGEVV ACLIRVPSEVVKQRAQVSASS
Bovine SSSYLMPVTHMLAASVGEVV ACLIRVPSEVVKQRAQVSASS
Xenopus laevis S-SYLSPIIHMAAAFLGELV ACLIRVPSEVIKQRAQVSPSS
Xenopus tropicalis S-SYLSPIIHMAAASLGEVV ACLIRVPSEVIKQRAQVSPSS
Zebrafish TTTNLAPITHMLAASLGEIV ACLIRVPTEVVKQRTQANPSI
Drosophila TQTKDSPYVHMAAASAAEVL ACLIRVPVEIAKQRSQTLQGN
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 – 274 S-adenosylmethionine mitochondrial carrier protein
85 – 105 Helical; Name=3
86 – 168 Solcar 2
Intra-mitochondrial methylation deficiency due to mutations in SLC25A26.
Kishita Y.; Pajak A.; Bolar N.A.; Marobbio C.M.; Maffezzini C.; Miniero D.V.; Monne M.; Kohda M.; Stranneheim H.; Murayama K.; Naess K.; Lesko N.; Bruhn H.; Mourier A.; Wibom R.; Nennesmo I.; Jespers A.; Govaert P.; Ohtake A.; Van Laer L.; Loeys B.L.; Freyer C.; Palmieri F.; Wredenberg A.; Okazaki Y.; Wedell A.;
Am. J. Hum. Genet. 97:761-768(2015)
Cited for: FUNCTION; INVOLVEMENT IN COXPD28; VARIANTS COXPD28 VAL-102; GLY-148 AND LEU-199; CHARACTERIZATION OF VARIANTS COXPD28 VAL-102; GLY-148 AND LEU-199;
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.