Home  |  Contact

UniProtKB/Swiss-Prot P21912: Variant p.Lys40Glu

Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial
Gene: SDHB
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-----------RIKKFAIYRWDPDKAGDKPHMQT

Mouse                         GLQ--FQACRGAQTAAAAAP-----------RIKKFAIYRW

Rat                           GLQ--FQACREAQTAAAAAP-----------RIKTFAIYRW

Pig                           GAC--LQACRGAQTAAATAP-----------RIKKFAIYRW

Bovine                        GAR--LQACRGAQTAAAAAP-----------RIKKFAIYRW

Chicken                       GLEAVHGICRGAQTAAAATS-----------RIKKFSIYRW

Xenopus laevis                GA---LQVSRGAQTAAAPAS-------QAAARIKKFAIYRW

Xenopus tropicalis            GV---LQVCRGAQTAAAAAP-----ASQAEARIKKFAIYRW

Zebrafish                     A----VTAVRFAQTAAAPAA---------QPRIKKFQIYRW

Caenorhabditis elegans        SGA--PATAAAAEASFPSTDDVAAKTKKTGNRIKTFEIYRF

Drosophila                    QMR--AISNGTAQLEQQAQP-----KEAQEPQIKKFEIYRW

Slime mold                    GIQS-AFYTTTAKTEASSSPQMKIKTAEKKDHFVNFQVYRY

Baker's yeast                 -----KGMATATTAAATHTP-----------RLKTFKVYRW

Fission yeast                 A----RMMATEANISATSAN-----PQSQGENLKTFEIYRW

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 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


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.