Variant position: 315 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:
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 LVTLGTLGTYTAFTVAVTRW- RTRFRIEMNKADNDAGNAAID
Mouse LVTLGTLGAYTAFTVAVTRW- RTRFRIEMNKADNDAGNAAI
Rat LVTLGTLGAYTAFTVAVTRW- RTRFRIEMNKADNDAGNAAI
Slime mold LLMISFLVILLISFLVFKKWI HPKYNYIQEKLVN-IGLIID
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
23 – 752 ATP-binding cassette sub-family B member 7, mitochondrial
140 – 436 ABC transmembrane type-1
Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia.
Shimada Y.; Okuno S.; Kawai A.; Shinomiya H.; Saito A.; Suzuki M.; Omori Y.; Nishino N.; Kanemoto N.; Fujiwara T.; Horie M.; Takahashi E.;
J. Hum. Genet. 43:115-122(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS GLY-315 AND ILE-346;
X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.
Maguire A.; Hellier K.; Hammans S.; May A.;
Br. J. Haematol. 115:910-917(2001)
Cited for: VARIANT ASAT LEU-411; VARIANTS GLY-315 AND ILE-346;
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