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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02042: Variant p.Arg117Cys

Hemoglobin subunit delta
Gene: HBD
Variant information Variant position: help 117 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 Arginine (R) to Cysteine (C) at position 117 (R117C, p.Arg117Cys). 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 large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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

Variant description: help In Corfu/Troodos. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.

Sequence information Variant position: help 117 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 147 The length of the canonical sequence.
Location on the sequence: help LHVDPENFRLLGNVLVCVLA R NFGKEFTPQMQAAYQKVVAG 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.



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.
Chain 2 – 147 Hemoglobin subunit delta
Helix 102 – 119

Literature citations
The IVS-II-1(G>A) betao-thalassemia mutation in cis with HbA2-Troodos [Delta 116 (G18) Arg>Cys (CGC>TGC)] causes a complex prenatal diagnosis in an Iranian family.
Eram S.M.; Azimifar S.B.; Abolghassemi H.; Foulady P.; Lotfi V.; Masroury M.; Hosseini M.; Abdolhosseini A.;
Hemoglobin 29:289-292(2005)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT TROODOS CYS-117; Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis.
Trifillis P.; Ioannou P.; Schwartz E.; Surrey S.;
Blood 78:3298-3305(1991)
Cited for: VARIANT YIALOUSA SER-28; VARIANT CORFU CYS-117; VARIANT PELENDRI PRO-142; A new delta chain variant hemoglobin A2-Corfu or alpha 2 delta 2 116 Arg-->Cys (G18), detected by delta-globin gene analysis in a Greek family.
Loudianos G.; Murru S.; Kanavakis E.; Metaxotou-Mavromati A.; Theodoropoulou D.; Kattamis C.; Cao A.; Pirastu M.;
Hum. Genet. 87:237-238(1991)
Cited for: VARIANT CORFU CYS-117;
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.