UniProtKB/Swiss-Prot Q9Y6H3: Variant p.Ser48Cys

Mitochondrial inner membrane protease ATP23 homolog
Gene: ATP23
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Variant information Variant position:

48 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 Serine (S) to Cysteine (C) at position 48 (S48C, p.Ser48Cys). 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 small size and polar (S) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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
Other resources:

Links to websites of interest for the variant.

Variant rs3751325 [ dbSNP | Ensembl ]

Sequence information Variant position:

48 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

246 The length of the canonical sequence.
Location on the sequence:

FPERLAQGNPQQGFFSSFFT S NQKCQLRLLKTLETNPYVKL 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                         FPERLAQGNPQQGFFS-SFFT-SNQKCQLRLLKTLETNPYVKL

Mouse                         SPEPPAHGKPQQGFLS-SLFT-RDQSCPLMLQKTLDTNPYV

Xenopus laevis                FPERGNGESKKNSILSKSLFS-FNHKCQLMLKIALDTSPYA

Xenopus tropicalis            FPERGNGDRKKQGLLSKSLFT-FNHKCQVMLKIALDTSPYA

Zebrafish                     YPERGS--RLKKSTVEESLFT-FKHKCQLMLQFAMDTSPYA

Slime mold                    PPTDDDTTTNGGGSLNKYVRKPTNQMCRENVEKTFKEDPIL

Baker's yeast                 TPEEKT--RYEDDSKARELKK-ECLKCYEYRDWMLKYSPTV

Fission yeast                 SKERKN--------------------CERVKRALMSQSPVI

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	1 – 246	Mitochondrial inner membrane protease ATP23 homolog

Literature citations
Isolation of Ku70-binding proteins (KUBs).
Yang C.-R.; Yeh S.-Y.; Leskov K.; Odegaard E.; Hsu H.L.; Chang C.; Kinsella T.J.; Chen D.J.; Boothman D.A.;
Nucleic Acids Res. 27:2165-2174(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT CYS-48; INTERACTION WITH XRCC6;

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.