Sequence information
Variant position: 400 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 752 The length of the canonical sequence.
Location on the sequence:
GQSAIFSVGLTAIMVLASQG
I VAGTLTVGDLVMVNGLLFQL
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 GQSAIFSVGLTAIMVLASQ----GI VAGTLTVGDLVMVNGLLFQL
Mouse GQNAIFSVGLTAIMVLASQ----GI VAGALTVGDLVMVNGL
Rat GQSAIFSVGLTAIMVLASQ----GI VAGALTVGDLVMVNGL
Slime mold ----AFWISFGSLLVMGTIIGIYGF AMSQTLSNSILLLQFI
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
23 – 752
ATP-binding cassette sub-family B member 7, mitochondrial
Transmembrane
383 – 403
Helical
Domain
140 – 436
ABC transmembrane type-1
Literature citations
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).
Allikmets R.; Raskind W.H.; Hutchinson A.; Schueck N.D.; Dean M.; Koeller D.M.;
Hum. Mol. Genet. 8:743-749(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; VARIANT ASAT MET-400;
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.