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UniProtKB/Swiss-Prot Q15437: Variant p.Asp348Ala

Protein transport protein Sec23B
Gene: SEC23B
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Variant information Variant position: help 348
Type of variant: help LP/P [Disclaimer]
Residue change: help From Aspartate (D) to Alanine (A) at position 348 (D348A, p.Asp348Ala).
Physico-chemical properties: help Change from medium size and acidic (D) to small size and hydrophobic (A)
BLOSUM score: help -2
Variant description: help In CDAN2.


Sequence information Variant position: help 348
Protein sequence length: help 767
Location on the sequence: help KATKHYEMLANRTAANGHCI D IYACALDQTGLLEMKCCANL
Residue conservation: help 
Human                         KATKHYEMLANRTAANGHCIDIYACALDQTGLLEMKCCANL

Mouse                         KATKHYEMLANRTATNGHCIDIYACALDQTGLLEMKCCPNL

Bovine                        KATKHYEMLANRTAANGHCIDIYACALDQTGLLEMKCCPNL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 767 Protein transport protein Sec23B



Literature citations
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;
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.