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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P18577: Variant p.Leu245Val

Blood group Rh(CE) polypeptide
Gene: RHCE
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Variant information Variant position: help 245 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Leucine (L) to Valine (V) at position 245 (L245V, p.Leu245Val). 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 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: 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

Polymorphism: help RhCE and RhD are responsible for the RH blood group system. The molecular basis of the E=Rh3/e=Rh5 blood group antigens is a single variation in position 226; Pro-226 corresponds to Rh3 and Ala-226 to Rh5. Variant p.Trp16Cys is associated with altered expression of E antigen. The molecular basis of the C=Rh2/c=Rh4 blood group antigens are variations in position 16, 60, 68 and 103; p.Cys16Trp, p.Ile60Leu, p.Ser68Asn and p.Ser103Pro are found in antigen Rh4. Additional information on the polymorphism described.
Variant description: help In VS antigen. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 245 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 417 The length of the canonical sequence.
Location on the sequence: help SALLRSPIQRKNAMFNTYYA L AVSVVTAISGSSLAHPQRKI 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.
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 2 – 417 Blood group Rh(CE) polypeptide
Transmembrane 238 – 258 Helical
Alternative sequence 163 – 409 Missing. In isoform 8h.
Alternative sequence 163 – 313 Missing. In isoform RHVIII.
Alternative sequence 164 – 268 Missing. In isoform RHVI and isoform 7a.
Alternative sequence 204 – 417 Missing. In isoform 8e.
Alternative sequence 212 – 384 Missing. In isoform 4g.
Alternative sequence 243 – 417 Missing. In isoform RhPI-Alpha.
Helix 231 – 256



Literature citations
Rare RHCE phenotypes in black individuals of Afro-Caribbean origin: identification and transfusion safety.
Noizat-Pirenne F.; Lee K.; Le Pennec P.-Y.; Simon P.; Kazup P.; Bachir D.; Rouzaud A.M.; Roussel M.; Juszczak G.; Menanteau C.; Rouger P.; Kotb R.; Cartron J.-P.; Ansart-Pirenne H.;
Blood 100:4223-4231(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI); VARIANTS TRP-16; VAL-238; VAL-245; GLY-263 AND LYS-267; Molecular basis for Crawford antigen expression.
Westhoff C.M.; Vege S.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI); VARIANTS TRP-16; PRO-226; GLU-233 AND VAL-245;
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.