Sequence information
Variant position: 115 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:
DKLHVDPENFRLLGNVLVCV
L AHHFGKEFTPPVQAAYQKVV
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 DKLHVDPENFRLLGNVLVCVL AHHFGKEFTPPVQAAYQKVV
Gorilla DKLHVDPENFKLLGNVLVCVL AHHFGKEFTPPVQAAYQKVV
Rhesus macaque DKLHVDPENFKLLGNVLVCVL AHHFGKEFTPQVQAAYQKVV
Chimpanzee DKLHVDPENFRLLGNVLVCVL AHHFGKEFTPPVQAAYQKVV
Pig DQLHVDPENFRLLGNVIVVVL ARRLGHDFNPNVQAAFQKVV
Bovine DKLHVDPENFKLLGNVLVVVL ARNFGKEFTPVLQADFQKVV
Rabbit DKLHVDPENFRLLGNVLVIVL SHHFGKEFTPQVQAAYQKVV
Sheep DKLHVDPENFRLLGNVLVVVL ARHHGNEFTPVLQADFQKVV
Cat DKLHVDPENFRLLGNVLVCVL AHHFGHDFNPQVQAAFQKVV
Horse DKLHVDPENFRLLGNVLVVVL ARHFGKDFTPELQASYQKVV
Chicken DKLHVDPENFRLLGDILIIVL AAHFSKDFTPECQAAWQKLV
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 – 147
Hemoglobin subunit beta
Site
96 – 96
Not glycated
Glycosylation
121 – 121
N-linked (Glc) (glycation) lysine
Helix
102 – 119
Literature citations
Electrophoretically silent, very unstable, thalassemic mutation at codon 114 of beta globin (hemoglobin Durham-N.C.) detected by cDNA sequencing of mRNA, from a Russian women.
Kutlar F.; Abboud M.; Leithner C.; Holley L.; Brisco J.; Kutlar A.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT DURHAM-N.C. PRO-115;
A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotype.
Murru S.; Poddie D.; Sciarratta G.V.; Agosti S.; Baffico M.; Melevendi C.; Pirastu M.; Cao A.;
Hum. Mutat. 1:124-128(1992)
Cited for: VARIANT DURHAM-N.C. PRO-115;
A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype.
de Castro C.M.; Devlin B.; Fleenor D.E.; Lee M.E.; Kaufman R.E.;
Blood 83:1109-1116(1994)
Cited for: VARIANT DURHAM-N.C. PRO-115;
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.