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UniProtKB/Swiss-Prot P28331 : Variant p.Val649Phe
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
Gene: NDUFS1
Variant information
Variant position: 649 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/BThe 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 Valine (V) to Phenylalanine (F) at position 649 (V649F, p.Val649Phe).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 hydrophobic (V) to large size and aromatic (F)The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -1The 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: 649 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 727 The length of the canonical sequence.
Location on the sequence:
IAGMTLPYDTLDQVRNRLEE
V SPNLVRYDDIEGANYFQQAN
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 IAGMTLPYDTLDQVRNRLEEV SPNLVRYDDIEGANYFQQAN
Gorilla IAGMTLPYDTLDQVRNRLEEV SPNLVRYDDIEGANYFQQAN
Chimpanzee IAGMTLPYDTLDQVRNRLEEV SPNLVRYDDIEGANYFQQAN
Mouse IAGITLPYDTLDQVRNRLEEV SPNLVRYDDIEETNYFQQAS
Rat IAGITLPYDTLDQVRNRLGEV SPNLVRYDDVEEANYFQQAS
Bovine IAGMTLPYDTLDQVRNRLEEV SPNLVRYDDVEGANYFQQAS
Drosophila VVGKPLPYDNLDELRNRLEDV APHLTRLGQLEPAGDAGAAG
Slime mold IGYIQLMYLNNKEMTRKEKEQ KDIKLSYREMKK-------E
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
24 – 727
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial
Literature citations
Determination of the cDNA sequence for the human mitochondrial 75-kDa Fe-S protein of NADH-coenzyme Q reductase.
Chow W.; Ragan I.; Robinson B.H.;
Eur. J. Biochem. 201:547-550(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT PHE-649;
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.