Variant position: 40 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 512 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 GRGEAETRECIYYNANWELE RTNQSGLER-CEGEQDKRLHCY
Mouse GRGEAETRECIYYNANWELE RTNQSGLER-CEGEQDKRLHC
Rat GRGEAETRECIYYNANWELE RTNQSGLER-CEGEQDKRLHC
Pig GRGEAETRECIYYNANWELE RTNQSGLER-CEGEQDKRLHC
Bovine GRGEAETRECIYYNANWELE RTNQSGLER-CEGERDKRLHC
Chicken GHGEAETRECIYYNANWELE KTNQSGVER-CEGEKDKRLHC
Xenopus laevis GHDEVETRECIYYNANWELE KTNQSGVERLVEGKKDKRLHC
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
19 – 512 Activin receptor type-2B
19 – 137 Extracellular
42 – 42 N-linked (GlcNAc...) asparagine
29 – 59
Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB.
Kosaki R.; Gebbia M.; Kosaki K.; Lewin M.; Bowers P.; Towbin J.A.; Casey B.;
Am. J. Med. Genet. 82:70-76(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; ALTERNATIVE SPLICING; VARIANTS HTX4 HIS-40 AND ILE-494;
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.