Sequence information
Variant position: 74 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 247 The length of the canonical sequence.
Location on the sequence:
SLLVKLPQVFKILGAKSAEG
L SLQSVMLELVALTGTMVYSI
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 SLLVKLPQVFKILGAKSAEGL SLQSVMLELVALTGTMVYSI
Mouse SLLVKLPQVFKLLGAKSAEGL SLQSVMLELVALTGTVVYSI
Caenorhabditis elegans SILLFVPQILKIQAARSAQGI SAASQLLALVGAIGTASYSY
Drosophila SVLVKVPQVLKILNSKSGEGI NIVGVVLDLLAISFHLSYNF
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 – 247
Mannose-P-dolichol utilization defect 1 protein
Transmembrane
74 – 94
Helical
Domain
39 – 105
PQ-loop 1
Literature citations
A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).
Kranz C.; Denecke J.; Lehrman M.A.; Ray S.; Kienz P.; Kreissel G.; Sagi D.; Peter-Katalinic J.; Freeze H.H.; Schmid T.; Jackowski-Dohrmann S.; Harms E.; Marquardt T.;
J. Clin. Invest. 108:1613-1619(2001)
Cited for: VARIANT CDG1F SER-74;
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.