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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P30301: Variant p.Gly165Asp

Lens fiber major intrinsic protein
Gene: MIP
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Variant information Variant position: help 165 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Glycine (G) to Aspartate (D) at position 165 (G165D, p.Gly165Asp). 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 glycine (G) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 CTRCT15; uncertain significance; loss of plasma membrane expression. Any additional useful information about the variant.


Sequence information Variant position: help 165 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 263 The length of the canonical sequence.
Location on the sequence: help IFATYDERRNGQLGSVALAV G FSLALGHLFGMYYTGAGMNP 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                         I---------FATYDERRNGQLGSVALAVGFSLALGHLFGMYYTGAGMNP

                              I---------FATYDERRNGRLGSVALAVGFSLTLGHLFGM

Mouse                         I---------FATYDERRNGRMGSVALAVGFSLTLGHLFGM

Bovine                        I---------FATYDERRNGRLGSVALAVGFSLTLGHLFGM

Rabbit                        I---------FATYDERRNGRLGSVALAVGFSLTLGHLFGM

Sheep                         I---------FATYDERRNGRLGSVALAVGFSLTLGHLFGM

Chicken                       V---------FASFDDRHDGRPGSAALPVGFSLALGHLFGI

Drosophila                    VITDGTNTIDWDTFERLASGQSAQ-------QQQQQPLQQQ

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 – 263 Lens fiber major intrinsic protein
Transmembrane 160 – 176 Helical
Site 149 – 149 Important for water channel gating



Literature citations
An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract.
Senthil Kumar G.; Kyle J.W.; Minogue P.J.; Dinesh Kumar K.; Vasantha K.; Berthoud V.M.; Beyer E.C.; Santhiya S.T.;
Exp. Eye Res. 110:136-141(2013)
Cited for: VARIANT CTRCT15 ASP-165; CHARACTERIZATION OF VARIANT CTRCT15 ASP-165; SUBCELLULAR LOCATION; Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.
Li J.; Leng Y.; Han S.; Yan L.; Lu C.; Luo Y.; Zhang X.; Cao L.;
Orphanet J. Rare Dis. 13:94-94(2018)
Cited for: VARIANTS CTRCT15 ASP-165; CYS-177 AND 204-TYR--LEU-263 DEL;
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.