UniProtKB/Swiss-Prot Q02161: Variant p.Phe223Val

Blood group Rh(D) polypeptide
Gene: RHD
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Variant information Variant position:

223 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 Phenylalanine (F) to Valine (V) at position 223 (F223V, p.Phe223Val). 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:

Change from large size and aromatic (F) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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
Polymorphism:

RHD and RHCE are responsible for the Rh blood group system. The molecular basis of the Tar=Rh40 blood group antigen is a variant in position 110. Homozygous deletion of the RHD gene results in Rh-negative (dd) individuals (PubMed:10845894, PubMed:1824267). Some polymorhisms lead to weak RHD expression. This phenotype called weak D, formerly known as D(u), is observed in about 0.2% to 1% of Caucasians (PubMed:9864185). Moderately decreased RHD expression results in a phenotype called DHMi (PubMed:9864185). Additional information on the polymorphism described.
Variant description:

Found in RhDVa(FK) and RhDVa(TT); may be associated with low RHD expression, resulting in a weak D phenotype. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1053356 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

TIPSLSAMLGALFLWMFWPS F NSALLRSPIERKNAVFNTYY 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                         TIPSLSAMLGALFLWMFWPSFNSALLRSPIERKNAVFNTYY

Mouse                         TSSSLFAMLGTLFLWIFWPAINSALLEG-TKKRNAVFNTYY

Rat                           TSSSLFAMLGTLFLWIFWPSINSALLEG-TKKKNAVFNTYY

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 – 417	Blood group Rh(D) polypeptide
Transmembrane	203 – 223	Helical

Literature citations
Polymorphisms of RhDVa in Japanese.
Hyodo H.; Ishikawa Y.; Kashiwase K.; Ogawa A.; Watanabe Y.; Tsuneyama H.; Toyoda C.; Uchikawa M.; Akaza T.; Fujii T.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS VAL-223; GLN-233; MET-238 AND LEU-245; Molecular basis of weak D phenotypes.
Wagner F.F.; Gassner C.; Mueller T.H.; Schoenitzer D.; Schunter F.; Flegel W.A.;
Blood 93:385-393(1999)
Cited for: INVOLVEMENT IN RH BLOOD GROUP SYSTEM; VARIANTS CYS-3; GLN-10; ASP-149; THR-182; ASN-198; ARG-201; ARG-220; VAL-223; GLY-270; PRO-276; GLU-277; ASP-282; ILE-283; PRO-294; ILE-295; ARG-307; GLU-339; ALA-385 AND ARG-393;

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.