Variant position: 53 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 451 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 QSVAGTEPGR-----------HPQA------VAAVLP AGGCGERMGVPTPKQFCPILE
Mouse LSVAGAEPGN-----------RPGT------VAAVLP AGGC
Rat LSAAGAEPGS-----------RIGT------VAAVLP AGGC
Bovine LSRFGAEAGC-----------RASA------VAAVLP AGGS
Xenopus tropicalis ----MDDAAK-----------DLGR------CAVVLP AGGC
Zebrafish ETQRPLDPGCLLPQDAERSADQPGRAVVDFPVAAVLP AGGS
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 – 451 D-ribitol-5-phosphate cytidylyltransferase
59 – 59 Transition state stabilizer
66 – 66 Transition state stabilizer
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Cirak S.; Foley A.R.; Herrmann R.; Willer T.; Yau S.; Stevens E.; Torelli S.; Brodd L.; Kamynina A.; Vondracek P.; Roper H.; Longman C.; Korinthenberg R.; Marrosu G.; Nuernberg P.; Michele D.E.; Plagnol V.; Hurles M.; Moore S.A.; Sewry C.A.; Campbell K.P.; Voit T.; Muntoni F.;
Cited for: VARIANTS MDDGC7 THR-53; LEU-149; 215-GLN--ALA-451 DEL; CYS-226; VAL-372 DEL AND 395-ARG--ALA-451 DEL; VARIANT MDDGA7 HIS-126;
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.