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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P61764: Variant p.His445Pro

Syntaxin-binding protein 1
Gene: STXBP1
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Variant information Variant position: help 445
Type of variant: help LP/P [Disclaimer]
Residue change: help From Histidine (H) to Proline (P) at position 445 (H445P, p.His445Pro).
Physico-chemical properties: help Change from medium size and polar (H) to medium size and hydrophobic (P)
BLOSUM score: help -2
Variant description: help In DEE4.


Sequence information Variant position: help 445
Protein sequence length: help 594
Location on the sequence: help KLIQHAQIPPEDSEIITNMA H LGVPIVTDSTLRRRSKPERK
Residue conservation: help 
Human                         KLIQHAQIPPEDSEIITNMAHLGVPIVTDSTLRRRSKPERK

Mouse                         KLIQHAQIPPEDSEIITNMAHLGVPIVTDSTLRRRSKPERK

Rat                           KLIQHAQIPPEDSEIITNMAHLGVPIVTDSTLRRRSKPERK

Bovine                        KLIQHAQIPPEDSEIITNMAHLGVPIVTDSTLRRRSKPERK

Chicken                       KLIQHAQIPAEDSEIITNMAHLGVPIITDSTLRRRSKPERK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 594 Syntaxin-binding protein 1



Literature citations
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
Carvill G.L.; Weckhuysen S.; McMahon J.M.; Hartmann C.; Moller R.S.; Hjalgrim H.; Cook J.; Geraghty E.; O'Roak B.J.; Petrou S.; Clarke A.; Gill D.; Sadleir L.G.; Muhle H.; von Spiczak S.; Nikanorova M.; Hodgson B.L.; Gazina E.V.; Suls A.; Shendure J.; Dibbens L.M.; De Jonghe P.; Helbig I.; Berkovic S.F.; Scheffer I.E.; Mefford H.C.;
Neurology 82:1245-1253(2014)
Cited for: VARIANTS DEE4 LYS-283; TYR-285 AND PRO-445;
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.