UniProtKB/Swiss-Prot P21912: Variant p.Lys40Glu

Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial
Gene: SDHB
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Variant information Variant position:

40 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 Lysine (K) to Glutamate (E) at position 40 (K40E, p.Lys40Glu). 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 (K) to medium size and acidic (E) 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

Sequence information Variant position:

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

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

GACLQASRGAQTAAATAPRI K KFAIYRWDPDKAGDKPHMQT 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                         GAC--------LQASRGAQTAAATAP------RIKK---------FAIYRWDPDKAGDKPHMQT

Mouse                         GLQ--------FQACRGAQTAAAAAP------RIKK-----

Rat                           GLQ--------FQACREAQTAAAAAP------RIKT-----

Pig                           GAC--------LQACRGAQTAAATAP------RIKK-----

Bovine                        GAR--------LQACRGAQTAAAAAP------RIKK-----

Chicken                       GLRPVRGLEAVHGICRGAQTAAAATS------RIKK-----

Xenopus laevis                GA---------LQVSRGAQTAAAPASQAAA--RIKK-----

Xenopus tropicalis            GV---------LQVCRGAQTAAAAAPASQAEARIKK-----

Zebrafish                     -----------VTAVRFAQTAAAPAAQP----RIKK-----

Caenorhabditis elegans        AASGAPATAAAAEASFPSTDDVAAKTKKTGN-RIKT-----

Drosophila                    RAISNGT----AQLEQQAQPKEAQEP------QIKK-----

Slime mold                    GIQS-------AFYTTTAKTEASSSP----QMKIKTAEKKD

Baker's yeast                 -----------KGMATATTAAATHTP------RLKT-----

Fission yeast                 -----------MMATEANISATSANPQSQGE-NLKT-----

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	29 – 280	Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial
Domain	40 – 133	2Fe-2S ferredoxin-type
Modified residue	51 – 51	N6-acetyllysine
Modified residue	55 – 55	N6-acetyllysine
Beta strand	39 – 46

Literature citations
K40E: a novel succinate dehydrogenase (SDH)B mutation causing familial phaeochromocytoma and paraganglioma.
McDonnell C.M.; Benn D.E.; Marsh D.J.; Robinson B.G.; Zacharin M.R.;
Clin. Endocrinol. (Oxf.) 61:510-514(2004)
Cited for: VARIANT GLU-40;

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.