Variant position: 109 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 767 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 FQRNQFPPAYGGISEVNQPA ELMPQFSTIEYVIQRGAQSPL
Mouse FQRNQFPPAYAGISEVNQPA ELMPQFSTIEYMIQRGARSPL
Bovine FQRNQFPPAYAGISEVNQPA ELMPQFSTIEYVIQRGAPSPL
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 – 767 Protein transport protein Sec23B
Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.
Bianchi P.; Fermo E.; Vercellati C.; Boschetti C.; Barcellini W.; Iurlo A.; Marcello A.P.; Righetti P.G.; Zanella A.;
Hum. Mutat. 30:1292-1298(2009)
Cited for: VARIANTS CDAN2 TRP-14; LYS-109; ALA-348; CYS-497; LEU-603 AND CYS-701; VARIANT GLN-489;
Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.
Schwarz K.; Iolascon A.; Verissimo F.; Trede N.S.; Horsley W.; Chen W.; Paw B.H.; Hopfner K.-P.; Holzmann K.; Russo R.; Esposito M.R.; Spano D.; De Falco L.; Heinrich K.; Joggerst B.; Rojewski M.T.; Perrotta S.; Denecke J.; Pannicke U.; Delaunay J.; Pepperkok R.; Heimpel H.;
Nat. Genet. 41:936-940(2009)
Cited for: VARIANTS CDAN2 TRP-14; LYS-109 AND TRP-530; VARIANTS HIS-18; GLY-239; HIS-313; THR-318; ARG-386; ILE-426; CYS-462; CYS-497 AND VAL-524; CHARACTERIZATION OF VARIANTS CDAN2 TRP-14 AND LYS-109; CHARACTERIZATION OF VARIANT GLY-239;
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.