Sequence information
Variant position: 35 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 334 The length of the canonical sequence.
Location on the sequence:
EEATVPNNKITVVGVGQVGM
A CAISILGKSLADELALVDVL
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 EEATVPNNKITVVGVGQVGMA CAISILGKSLADELALVDVL
Chimpanzee EEATIPNNKITVVGVGQVGMA CAISILGKSLADELALVDVL
Mouse DEAAVPNNKITVVGVGQVGMA CAISILGKSLADELALVDVL
Rat DETAVPNNKITVVGVGQVGMA CAISILGKSLADELALVDVL
Pig EETTIPNNKITVVGVGQVGMA CAISILGKSLTDELALVDVL
Bovine EETRIPNNKITVVGVGQVGMA CAISILGKSLTDELALVDVL
Chicken G-STVPSNKITVVGVGQVGMA CAISILGKGLCDELALVDVL
Xenopus laevis DKAAKPTNKITIVGVGQVGMA CAVSVLLKELADELALVDIL
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
2 – 334
L-lactate dehydrogenase B chain
Binding site
31 – 53
Modified residue
44 – 44
Phosphoserine
Mutagenesis
53 – 53
D -> A. Abolishes interaction with MP31.
Helix
31 – 42
Literature citations
Detection and characterization of new genetic mutations in individuals heterozygous for lactate dehydrogenase-B(H) deficiency using DNA conformation polymorphism analysis and silver staining.
Maekawa M.; Sudo K.; Kitajima M.; Matsuura Y.; Li S.S.-L.; Kanno T.;
Hum. Genet. 91:163-168(1993)
Cited for: VARIANTS LDHBD GLU-35; VAL-171 AND LEU-175;
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.