Sequence information
Variant position: 133 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 301 The length of the canonical sequence.
Location on the sequence:
LFAAGMLSGVFTTGIMTPGE
R IKCLLQIQASSGESKYTGTL
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 LFAAGMLSGVFTTGIMTPGER IKCLLQIQASSGESKYTGTL
Mouse LFTAGMLSGVFTTGIMTPGER IKCLLQIQASSGENKYSGTL
Rat LFTAGMLSGVFTTGIMTPGER IKCLLQIQASSGKNKYSGTL
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
2 – 301
Mitochondrial carnitine/acylcarnitine carrier protein
Topological domain
132 – 170
Mitochondrial matrix
Repeat
108 – 196
Solcar 2
Modified residue
148 – 148
N6-acetyllysine
Literature citations
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
Iacobazzi V.; Invernizzi F.; Baratta S.; Pons R.; Chung W.; Garavaglia B.; Dionisi-Vici C.; Ribes A.; Parini R.; Huertas M.D.; Roldan S.; Lauria G.; Palmieri F.; Taroni F.;
Hum. Mutat. 24:312-320(2004)
Cited for: VARIANTS CACTD TRP-133 AND HIS-231;
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.