Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P30301: Variant p.Asp150His

Lens fiber major intrinsic protein
Gene: MIP
Feedback?
Variant information Variant position: help 150 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 Aspartate (D) to Histidine (H) at position 150 (D150H, p.Asp150His). 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 medium size and acidic (D) to medium size and polar (H) 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; loss of plasma membrane expression. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 150 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 ATTVEIFLTLQFVLCIFATY D ERRNGQLGSVALAVGFSLAL 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                         ATTVEIFLTLQFVLCI---------FATYDERRNGQLGSVALAVGFSLAL

                              ATTVEIFLTLQFVLCI---------FATYDERRNGRLGSVA

Mouse                         ATTVEIFLTLQFVLCI---------FATYDERRNGRMGSVA

Bovine                        ATIVEIFLTLQFVLCI---------FATYDERRNGRLGSVA

Rabbit                        ATTVEIFLTLQFVLCI---------FATYDERRNGRLGSVA

Sheep                         ATIVEIFLTLQFVLCI---------FATYDERRNGRLGSVA

Chicken                       GTVVELLLTAQFILCV---------FASFDDRHDGRPGSAA

Drosophila                    VSDPDIYMTGHFVPLVITDGTNTIDWDTFERLASGQSAQ--
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
Topological domain 148 – 159 Cytoplasmic
Site 149 – 149 Important for water channel gating



Literature citations
Identification and functional analysis of a novel MIP gene mutation associated with congenital cataract in a Chinese family.
Shentu X.; Miao Q.; Tang X.; Yin H.; Zhao Y.;
PLoS ONE 10:E0126679-E0126679(2015)
Cited for: VARIANT CTRCT15 HIS-150; CHARACTERIZATION OF VARIANT CTRCT15 HIS-150; SUBCELLULAR LOCATION;
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.