Variant position: 206 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 339 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 LTSDSPNILKELDESKAYVI GGLVDHNHHKGLTYKQASDYG
Mouse LTSDSPNVLKDLDESKAYVI GGLVDHSHHKGLTFKQATSYG
Rat LTSDSPNVLKDLDESKAYVI GGLVDHNHHKGLTFKQASSYG
Bovine LTSDSPNILKELDESKAYVI GGLVDHNHHKGLTYKQASDHG
Xenopus tropicalis LTSDSPEVLSELDETKAYII GGLVDHNHHKGITYKKALELG
Drosophila LTCESDRVLDKLQPGCTYVI GGLVDHNHFKGLCHSRATSAG
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 – 339 tRNA methyltransferase 10 homolog A
89 – 279 SAM-dependent MTase TRM10-type
201 – 206
TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly.
Gillis D.; Krishnamohan A.; Yaacov B.; Shaag A.; Jackman J.E.; Elpeleg O.;
J. Med. Genet. 51:581-586(2014)
Cited for: FUNCTION; INTERACTION WITH TRANSFER RNA; INVOLVEMENT IN MSSGM1; VARIANT MSSGM1 ARG-206; CHARACTERIZATION OF VARIANT MSSGM1 ARG-206;
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.