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UniProtKB/Swiss-Prot Q8N335: Variant p.Glu83Lys

Glycerol-3-phosphate dehydrogenase 1-like protein
Gene: GPD1L
Variant information

Variant position:  83
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 Glutamate (E) to Lysine (K) at position 83 (E83K, p.Glu83Lys).
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 (E) to large size and basic (K)
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

Variant description:  In BRGDA2; unknown pathological significance; decreased enzymatic activity and significant reduction of sodium current when coexpressed with SCN5A in HEK cells.
Any additional useful information about the variant.

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



Sequence information

Variant position:  83
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  351
The length of the canonical sequence.

Location on the sequence:   VKYLPGHKLPENVVAMSNLS  E AVQDADLLVFVIPHQFIHRI
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                         VKYLPGHKLPENVVAMSNLSEAVQDADLLVFVIPHQFIHRI

Mouse                         VKYLPGHKLPENVVAVPNLSEAVQDADLLVFVIPHQFIHKI

Xenopus laevis                VKYLPGHKLPENVVALPNLTDAVRDADLLIFVIPHQFIHKV

Xenopus tropicalis            VKYLPGYKLPENVVAVPNLSDAVKDADLLIFVIPHQFIHKI

Zebrafish                     VKYLPGYKLPENVVAVPQLRDAADGADLLVFVVPHQFIRKL

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 1 – 351 Glycerol-3-phosphate dehydrogenase 1-like protein
Helix 81 – 85


Literature citations

GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A.
Valdivia C.R.; Ueda K.; Ackerman M.J.; Makielski J.C.;
Am. J. Physiol. 297:H1446-H1452(2009)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS BRGDA2 LYS-83 AND VAL-280; INTERACTION WITH SCN5A; CATALYTIC ACTIVITY;

Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome.
Van Norstrand D.W.; Valdivia C.R.; Tester D.J.; Ueda K.; London B.; Makielski J.C.; Ackerman M.J.;
Circulation 116:2253-2259(2007)
Cited for: VARIANTS BRGDA2 LYS-83; VAL-124 AND CYS-273; CHARACTERIZATION OF VARIANTS BRGDA2 LYS-83; VAL-124 AND CYS-273;

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.