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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UKM7: Variant p.Arg334Cys

Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase
Gene: MAN1B1
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Variant information Variant position: help 334 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Cysteine (C) at position 334 (R334C, p.Arg334Cys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In RAFQS; results in about 1300-fold decrease in activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 334 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 699 The length of the canonical sequence.
Location on the sequence: help VSKKLHFEKDVDVNLFESTI R ILGGLLSAYHLSGDSLFLRK 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         VSKKLHFEKDVDVNLFESTIRILGGLLSAYHLSGDSLFLRK

Mouse                         VSENLDFQKNVDVNLFESTIRILGGLLSTYHLSGDSLFLTK

Rat                           VSENLDFQKNVDVNLFESTIRILGGLLSAYHLSGDSLFLSK
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 699 Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase
Topological domain 106 – 699 Lumenal
Active site 330 – 330 Proton donor
Mutagenesis 330 – 330 E -> Q. About 44-fold reduction in K(cat), slight reduction in K(m), about 100-fold increase in binding affinity for Man(9)GlcnAc(2) but no change in binding affinity for the inhibitor, dMNJ. Even further greater reduction in K(cat) and increase in K(m); when associated with Q-599.
Helix 328 – 346



Literature citations
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
Rafiq M.A.; Kuss A.W.; Puettmann L.; Noor A.; Ramiah A.; Ali G.; Hu H.; Kerio N.A.; Xiang Y.; Garshasbi M.; Khan M.A.; Ishak G.E.; Weksberg R.; Ullmann R.; Tzschach A.; Kahrizi K.; Mahmood K.; Naeem F.; Ayub M.; Moremen K.W.; Vincent J.B.; Ropers H.H.; Ansar M.; Najmabadi H.;
Am. J. Hum. Genet. 89:176-182(2011)
Cited for: VARIANTS RAFQS CYS-334 AND LYS-397; CHARACTERIZATION OF VARIANTS RAFQS CYS-334 AND LYS-397;
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.