UniProtKB/Swiss-Prot Q8IWW8: Variant p.Asp242Val

Hydroxyacid-oxoacid transhydrogenase, mitochondrial
Gene: ADHFE1
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Variant information Variant position:

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

US 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 Aspartate (D) to Valine (V) at position 242 (D242V, p.Asp242Val). 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 medium size and acidic (D) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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
Variant description:

In a breast cancer sample; somatic mutation. Any additional useful information about the variant.

Sequence information Variant position:

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

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

LIDPLHTLHMPARVVANSGF D VLCHALESYTTLPYHLRSPC 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                         LIDPLHTLHMPARVVANSGFDVLCHALESYTTLPYHLRSPC

Mouse                         LVDPLHTLHMPCQVVANSGFDVLCHALESYTAIPYSMRSPC

Rat                           LVDPLHTLHMPCQVVANSGFDVLCHALESYTAIPYSMRSPC

Bovine                        LIDPLHTLHMPERVVANSGFDVLCHALESYTALPYHMRSPC

Xenopus laevis                LIDPAHTLSMPERVVANSGFDVLCHSLESYTALPYNMRSPC

Xenopus tropicalis            LIDPVHTLSMPERVVANSGFDVLCHSLESYTALPYNMRSPC

Caenorhabditis elegans        VVDPLNVMSMPRNVAIYSGFDVLCHALESFTALPFDQRSPR

Drosophila                    VIDPLHTLSQPQRVMAFAGFDVFCHALESFTAVDYRERGLA

Slime mold                    LVDPDNLLTLPSNVAISSGFDQLCHALESFTAIPFNQRSPR

Literature citations
The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-242;

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.