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UniProtKB/Swiss-Prot P31040: Variant p.Tyr629Phe

Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial
Gene: SDHA
Variant information

Variant position:  629
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Tyrosine (Y) to Phenylalanine (F) at position 629 (Y629F, p.Tyr629Phe).
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:  Similar physico-chemical property. Both residues are large size and aromatic.
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

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  629
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  664
The length of the canonical sequence.

Location on the sequence:   PIQGQQKKPFEEHWRKHTLS  Y VDVGTGKVTLEYRPVIDKTL
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                         PIQGQQKKPFEEHWRKHTLSYVDVGTGKVTLEYRPVIDKTL

Mouse                         PIQGQQKKPFGEHWRKHTLSYVDIKTGKVTLEYRPVIDKTL

Rat                           PIEGQQKKPFAEHWRKHTLSYVDTKTGKVTLDYRPVIDKTL

Pig                           PIQGQQKKPFQEHWRKHTLSYVDVKTGKVSLEYRPVIDKTL

Bovine                        PIQGQQKKPFEQHWRKHTLSYVDIKTGKVTLEYRPVIDRTL

Chicken                       PLQGQQKRPFEEHWRKHTLSYVDVKSGKVTLKYRPVIDRTL

Xenopus tropicalis            PIQGQQKKSFSEHWRKHTLSYVD-GKGKVSLEYRPVIDTTL

Zebrafish                     PLQGQVKKPFEQHWRKHTLSYVDPETGKVTLEYRPVIDSSL

Caenorhabditis elegans        PLEGQTKKELKDHWRKHSIIRSNIETGEVSLDYRPVIDTTL

Drosophila                    PLDGQQKKPMDQHWRKHTLSWVCNDNGDITLDYRNVIDTTL

Slime mold                    ------------NWMKHTLSYLDVNTGKVTLNYRPVVSETL

Baker's yeast                 ------------HWMKHTLSWQKDVAAPVTLKYRRVIDHTL

Fission yeast                 ------------NWIKHTLTWQHKTGDPVTLKYRAVTRTTM

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.

TypePositionsDescription
Chain 43 – 664 Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial
Modified residue 615 – 615 N6-succinyllysine
Modified residue 624 – 624 N6-acetyllysine
Modified residue 636 – 636 N6-acetyllysine
Modified residue 647 – 647 N6-acetyllysine


Literature citations

The cDNA sequence of the flavoprotein subunit of human heart succinate dehydrogenase.
Morris A.A.M.; Farnsworth L.; Ackrell B.A.C.; Turnbull D.M.; Birch-MacHin M.A.;
Biochim. Biophys. Acta 1185:125-128(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS PHE-629 AND ILE-657;

Homo sapiens protein coding cDNA.
Totoki Y.; Toyoda A.; Takeda T.; Sakaki Y.; Tanaka A.; Yokoyama S.; Ohara O.; Nagase T.; Kikuno R.F.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT PHE-629;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3); VARIANT PHE-629;

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.