UniProtKB/Swiss-Prot P18577: Variant p.Cys16Trp

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 16 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 Cysteine (C) to Tryptophan (W) at position 16 (C16W, p.Cys16Trp). 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 medium size and polar (C) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -2 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: 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: Found in antigen c/Rh4. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs586178 [ dbSNP | Ensembl ]

Sequence information

Variant position: 16 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: MSSKYPRSVRRCLPL C ALTLEAALILLFYFFTHYDA 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: 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
Initiator methionine	1 – 1	Removed
Chain	2 – 417	Blood group Rh(CE) polypeptide
Transmembrane	12 – 32	Helical
Helix	12 – 31

Literature citations

cDNA cloning of a 30 kDa erythrocyte membrane protein associated with Rh (Rhesus)-blood-group-antigen expression.
Avent N.D.; Ridgwell K.; Tanner M.J.A.; Anstee D.J.;
Biochem. J. 271:821-825(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI); VARIANTS TRP-16 AND PRO-226; Molecular cloning and protein structure of a human blood group Rh polypeptide.
Cherif-Zahar B.; Bloy C.; le van Kim C.; Blanchard D.; Bailly P.; Hermand P.; Salmon C.; Cartron J.-P.; Colin Y.;
Proc. Natl. Acad. Sci. U.S.A. 87:6243-6247(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI); PARTIAL PROTEIN SEQUENCE; VARIANTS TRP-16 AND PRO-226; Multiple Rh messenger RNA isoforms are produced by alternative splicing.
le van Kim C.; Cherif-Zahar B.; Raynal V.; Mouro I.; Lopez M.; Cartron J.-P.; Colin Y.;
Blood 80:1074-1078(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS RHIV; RHVI AND RHVIII); VARIANT TRP-16; Isolation of a new cDNA clone encoding an Rh polypeptide associated with the Rh blood group system.
Kajii E.; Umenishi F.; Iwamoto S.; Ikemoto S.;
Hum. Genet. 91:157-162(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI); VARIANTS TRP-16 AND PRO-226; E variants found in Japanese and c antigenicity alteration without substitution in the second extracellular loop.
Kashiwase K.; Ishikawa Y.; Hyodo H.; Watanabe Y.; Ogawa A.; Tsuneyama H.; Toyoda C.; Uchikawa M.; Akaza T.; Omine M.; Juji T.;
Transfusion 41:1408-1412(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI); VARIANTS TRP-16; ILE-60; SER-68; SER-103; VAL-127; ASP-128; THR-154; PRO-226; GLU-233 AND VAL-238; 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; RHCE gene, allele CE, antigen CE.
Vege S.; Westhoff C.M.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RHI); VARIANTS TRP-16; ILE-60; SER-68; SER-103 AND PRO-226; RHD allele and RH haplotype distribution in Tibetans.
Wei Q.; Flegel W.A.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS TRP-16; ILE-60; SER-68; SER-103; PRO-226 AND GLU-398; Submission
Bugert P.; Scharberg E.A.; Geisen C.; von Zabern I.; Flegel W.A.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS TRP-16; ILE-60; SER-68; SER-103; PRO-226 AND LYS-267; Molecular genetic basis of the human Rhesus blood group system.
Mouro I.; Colin Y.; Cherif-Zahar B.; Cartron J.-P.; le van Kim C.;
Nat. Genet. 5:62-65(1993)
Cited for: VARIANTS TRP-16; ILE-60; SER-68 AND SER-103; POLYMORPHISM;