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UniProtKB/Swiss-Prot Q15436: Variant p.Phe382Leu

Protein transport protein Sec23A
Gene: SEC23A
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Variant information Variant position: help 382
Type of variant: help LP/P [Disclaimer]
Residue change: help From Phenylalanine (F) to Leucine (L) at position 382 (F382L, p.Phe382Leu).
Physico-chemical properties: help Change from large size and aromatic (F) to medium size and hydrophobic (L)
BLOSUM score: help 0
Variant description: help In CLSD; loss of COPII vesicle coating; results in absence of incorporation of cargo proteins into vesicles.
Other resources: help


Sequence information Variant position: help 382
Protein sequence length: help 765
Location on the sequence: help CCPNLTGGYMVMGDSFNTSL F KQTFQRVFTKDMHGQFKMGF
Residue conservation: help 
Human                         CCPNLTGGYMVMGDSFNTSLFKQTFQRVFTKDMHGQFKMGF

Mouse                         CCPNLTGGYMVMGDSFNTSLFKQTFQRVFTKDIHGQFKMGF

Bovine                        CCPNLTGGYMVMGDSFNTSLFKQTFQRVFTKDMHGQFKMGF

Chicken                       CCANLTGGHMVMGDSFNTSLFKQTFQRVFNKGLNGEFRMAF

Xenopus tropicalis            CCPNNTGGYMVMGDSFNTSLFKQTFQRVFTKDAQSNFKMAF

Zebrafish                     CCTNYTGGYMVMADSFNTSLFKQTFQRVFTKDVQGCFKMAL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 765 Protein transport protein Sec23A
Helix 380 – 388



Literature citations
Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.
Boyadjiev S.A.; Fromme J.C.; Ben J.; Chong S.S.; Nauta C.; Hur D.J.; Zhang G.; Hamamoto S.; Schekman R.; Ravazzola M.; Orci L.; Eyaid W.;
Nat. Genet. 38:1192-1197(2006)
Cited for: VARIANT CLSD LEU-382; CHARACTERIZATION OF VARIANT CLSD LEU-382; FUNCTION;
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.