Variant position: 117 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 147 The length of the canonical sequence.
Location on the sequence:
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 LHVDPENFRLLGNVLVCVLA RNFGKEFTPQMQAAYQKVVAG
Gorilla LHVDPENFRLLGNVLVCVLA RNFGKEFTPQVQAAYQKVVAG
Chimpanzee LHVDPENFRLLGNVLVCVLA RNFGKEFTPQVQAAYQKVVAG
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.
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.;
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.;
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;
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