Variant position: 146 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 488 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 VATMFCWVTAMQFHLMFYCT RTLPN-VLALPVVLLALAAWLR
Mouse VAVMFCWISATQFHLMFYCT RTLPN-VLALAVVLPALTAWL
Caenorhabditis elegans TAMYLRLIMCTQFHYIFYMS RPLPN-TFALILVMIVFERLL
Drosophila VRLWFTAITITQFHFMFYMT RPLPN-IFALPIVLFAIAYWL
Baker's yeast AGTWFLLFLIGSFHLMFYST RTLPNFVMTLPLTNVALGWVL
Fission yeast SGALFILFSCAQFHLVYYMS RPLSN-IFGLIATNHSLSLLL
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 – 488 Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase
145 – 165 Helical
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type Ig.
Grubenmann C.E.; Frank C.G.; Kjaergaard S.; Berger E.G.; Aebi M.; Hennet T.;
Hum. Mol. Genet. 11:2331-2339(2002)
Cited for: CHARACTERIZATION OF VARIANTS CDG1G MET-67 AND GLN-146;
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.
Kranz C.; Basinger A.A.; Guecsavas-Calikoglu M.; Sun L.; Powell C.M.; Henderson F.W.; Aylsworth A.S.; Freeze H.H.;
Am. J. Med. Genet. A 143:1371-1378(2007)
Cited for: VARIANTS CDG1G ARG-101 AND GLN-146;
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.