Variant position: 69 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 142 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 LSHGSAQVKGHGKKVADALT NAVAHVDDMPNALSALSDLHA
Gorilla LSHGSAQVKGHGKKVADALT NAVAHVDDMPNALSALSDLHA
Rhesus macaque LSHGSAQVKGHGKKVADALT LAVGHVDDMPNALSALSDLHA
Chimpanzee LSHGSAQVKGHGKKVADALT NAVAHVDDMPNALSALSDLHA
Mouse VSHGSAQVKGHGKKVADALA SAAGHLDDLPGALSALSDLHA
Rat VSPGSAQVKAHGKKVADALA KAADHVEDLPGALSTLSDLHA
Pig LSHGSDQVKAHGQKVADALT KAVGHLDDLPGALSALSDLHA
Bovine LSHGSAQVKGHGAKVAAALT KAVEHLDDLPGALSELSDLHA
Rabbit FTHGSEQIKAHGKKVSEALT KAVGHLDDLPGALSTLSDLHA
Sheep LSHGSAQVKGHGEKVAAALT KAVGHLDDLPGTLSDLSDLHA
Cat LSHGSAQVKAHGQKVADALT QAVAHMDDLPTAMSALSDLHA
Horse LSHGSAQVKAHGKKVGDALT LAVGHLDDLPGALSNLSDLHA
Chicken LSHGSAQIKGHGKKVVAALI EAANHIDDIAGTLSKLSDLHA
Xenopus tropicalis FSEHSKHILAHGKKVSDALN EACNHLDNIAGCLSKLSDLHA
Zebrafish LSPGSGPVKKHGKTIMGAVG EAISKIDDLVGGLAALSELHA
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
2 – 142 Hemoglobin subunit alpha
59 – 59 Iron (heme b distal ligand)
88 – 88 Iron (heme b proximal ligand)
57 – 57 Not glycated
61 – 61 Not glycated
50 – 50 Phosphoserine
62 – 62 N-linked (Glc) (glycation) lysine
54 – 72
Hb G-Philadelphia (Alpha,Codon 68;AAC>AAG/Asn>Lys)in black is detected on a chromosome that carries alpha 3.7 kb deletion showed completely normal alpha-2 globin gene sequence.
Kutlar F.; Davis D.H.; Nechtman J.; Elam D.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (HBA2); VARIANT G-PHILADELPHIA LYS-69;
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.