Variant position: 55 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 298 The length of the canonical sequence.
Location on the sequence:
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 FEYVRDFEADDTCLAHCWVV VRLDGRNFHRFAEKHNFAKPN
Mouse FEYVRNFEVQDTCLPHCWVV VRLDGRNFHRFAEEHNFAKPN
Rat FEYVRDFEVDDTCLPHCWVV VRLDGRNFHRFAEKHNFAKPN
Bovine FEYVRDFEADDTCLPHCWVV VRLDGRNFHRFAEKHSFIKPN
Drosophila FEYVKSFEQDDSILPNVWIV IRIDGKKFHKFSKTHDFEKPN
Slime mold YEYVKSFEQPDILLQNVWIV VRIDGRSFHKFTTKHDYAKPN
Baker's yeast FGYVRQFETHDVILPQCYIV VRIDGKKFHEFSKFYEFAKPN
Fission yeast FEYVKQYERLDRLLPETYIV IRIDGKGFHKFTKKHDFEKPN
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
1 – 298 Probable tRNA(His) guanylyltransferase
58 – 58 Magnesium 1; catalytic
58 – 58 Magnesium 2; catalytic
59 – 59 Magnesium 1; via carbonyl oxygen; catalytic
58 – 58 D -> A. Reduces activity by 99.5%.
63 – 63 H -> A. Slightly reduced enzyme activity.
51 – 59
A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.
Edvardson S.; Elbaz-Alon Y.; Jalas C.; Matlock A.; Patel K.; Labbe K.; Shaag A.; Jackman J.E.; Elpeleg O.;
Cited for: INVOLVEMENT IN SCAR28; VARIANT SCAR28 ALA-55; CHARACTERIZATION OF VARIANT SCAR28 ALA-55; FUNCTION;
Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia.
Walker M.A.; Lerman-Sagie T.; Swoboda K.; Lev D.; Blumkin L.;
Am. J. Med. Genet. A 179:1575-1579(2019)
Cited for: VARIANT SCAR28 ALA-55;
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.