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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P55087: Variant p.Ala215Thr

Aquaporin-4
Gene: AQP4
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Variant information Variant position: help 215 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 Alanine (A) to Threonine (T) at position 215 (A215T, p.Ala215Thr). 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 small size and hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 MLC4; likely pathogenic; loss of function in cell volume regulation; does not localize to the cell membrane. Any additional useful information about the variant.


Sequence information Variant position: help 215 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 323 The length of the canonical sequence.
Location on the sequence: help FSVAIGHLFAINYTGASMNP A RSFGPAVIMGNWENHWIYWV 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                         FSVAIGHLFAINYTGASMNPARSFGPAVIMGNWENHWIYWV

Mouse                         FSVAIGHLFAINYTGASMNPARSFGPAVIMGNWANHWIYWV

Rat                           FSVAIGHLFAINYTGASMNPARSFGPAVIMGNWENHWIYWV

Bovine                        ISVAIGHLFAINYTGASMNPARSFGPAVIMGNWENHWIYWV
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 – 323 Aquaporin-4
Intramembrane 209 – 222 Discontinuously helical
Motif 213 – 215 NPA 2
Glycosylation 206 – 206 N-linked (GlcNAc...) asparagine
Helix 214 – 224



Literature citations
Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema.
Passchier E.M.J.; Kerst S.; Brouwers E.; Hamilton E.M.C.; Bisseling Q.; Bugiani M.; Waisfisz Q.; Kitchen P.; Unger L.; Breur M.; Hoogterp L.; de Vries S.I.; Abbink T.E.M.; Kole M.H.P.; Leurs R.; Vischer H.F.; Brignone M.S.; Ambrosini E.; Feillet F.; Born A.P.; Epstein L.G.; Mansvelder H.D.; Min R.; van der Knaap M.S.;
Brain 146:3444-3454(2023)
Cited for: VARIANT MLC4 THR-215; INVOLVEMENT IN MLC4; CHARACTERIZATION OF VARIANT MLC4 THR-215; FUNCTION; TRANSPORTER ACTIVITY; 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.