UniProtKB/Swiss-Prot P29972: Variant p.Pro38Leu

Aquaporin-1
Gene: AQP1
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Variant information Variant position:

38 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Proline (P) to Leucine (L) at position 38 (P38L, p.Pro38Leu). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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
Polymorphism:

AQP1 is responsible for the Colton blood group system [MIM:110450]. Approximately 92% of Caucasians are Co(A+B-) (Ala-45), approximately 8% are Co(A+B+), and only 0.2% are Co(A-B+) (Val-45). Co(A-B-) which is very rare, is due to a complete absence of AQP1. Additional information on the polymorphism described.
Variant description:

In Co(A-B-) antigen; non functional AQP1; red cells show low osmotic water permeability. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs104894004 [ dbSNP | Ensembl ]

Sequence information Variant position:

38 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

269 The length of the canonical sequence.
Location on the sequence:

FLATTLFVFISIGSALGFKY P VGNNQTAVQDNVKVSLAFGL 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                         FLATTLFVFISIGSALGFKYPVGNNQT--AVQDNVKVSLAFGL

                              FLAMILFVFISIGSALGFNYPVRNNQTAGAAQDNVKVSLAF

Mouse                         FLAMTLFVFISIGSALGFNYPLERNQT--LVQDNVKVSLAF

Rat                           FLAMTLFVFISIGSALGFNYPLERNQT--LVQDNVKVSLAF

Pig                           FLAMTLFIFISIGSALGFQYPVRNNQTSGAAQDNVKVSLAF

Bovine                        FLAMILFIFISIGSALGFHYPIKSNQTTGAVQDNVKVSLAF

Sheep                         FLAMILFIFISIGSALGFHYPIKSNQTTGAVQDNVKVSLAF

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 – 269	Aquaporin-1
Topological domain	37 – 48	Extracellular
Site	56 – 56	Substrate discrimination
Glycosylation	42 – 42	N-linked (GlcNAc...) asparagine
Alternative sequence	1 – 128	MASEFKKKLFWRAVVAEFLATTLFVFISIGSALGFKYPVGNNQTAVQDNVKVSLAFGLSIATLAQSVGHISGAHLNPAVTLGLLLSCQISIFRALMYIIAQCVGAIVATAILSGITSSLTGNSLGRND -> MFWTFGYEAVSPAGPSHLFASLLLGVLLTITFMPGARPLPLVLVPQNTLAWMQLDAKAPAHPRPLQLLGRVGPGSRQ. In isoform 3.
Alternative sequence	1 – 45	MASEFKKKLFWRAVVAEFLATTLFVFISIGSALGFKYPVGNNQTA -> MPGARPLPLVLVPQNTLAWMQLDAKAPAHPRPLQLLGRVGPGSRQ. In isoform 2.
Alternative sequence	14 – 128	Missing. In isoform 4.
Beta strand	38 – 40

Literature citations
Mutations in aquaporin-1 in phenotypically normal humans without functional CHIP water channels.
Preston G.M.; Smith B.L.; Zeidel M.L.; Moulds J.J.; Agre P.;
Science 265:1585-1587(1994)
Cited for: VARIANT LEU-38; INVOLVEMENT IN COLTON BLOOD GROUP SYSTEM;

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.