UniProtKB/Swiss-Prot O75027: Variant p.Arg315Gly

Iron-sulfur clusters transporter ABCB7, mitochondrial
Gene: ABCB7
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Variant information Variant position:

315 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Arginine (R) to Glycine (G) at position 315 (R315G, p.Arg315Gly). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from large size and basic (R) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page

Sequence information 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:

LVTLGTLGTYTAFTVAVTRW R TRFRIEMNKADNDAGNAAID 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

Zebrafish                     LVTLGTLSAYTAFTVAVTQW-RTQFRIEMNKADNEAGNAAI

Slime mold                    LLMISFLVILLISFLVFKKWIHPKYNYIQEKLVN-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
Chain	23 – 752	Iron-sulfur clusters transporter ABCB7, mitochondrial
Topological domain	312 – 382	Mitochondrial matrix
Domain	140 – 436	ABC transmembrane type-1
Binding site	315 – 319
Helix	291 – 338

Literature citations
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 SCAX6 LEU-411; VARIANTS GLY-315 AND ILE-346;

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.