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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21579: Variant p.Asp304Gly

Synaptotagmin-1
Gene: SYT1
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Variant information Variant position: help 304
Type of variant: help LP/P [Disclaimer]
Residue change: help From Aspartate (D) to Glycine (G) at position 304 (D304G, p.Asp304Gly).
Physico-chemical properties: help Change from medium size and acidic (D) to glycine (G)
BLOSUM score: help -1
Variant description: help In BAGOS.


Sequence information Variant position: help 304
Protein sequence length: help 422
Location on the sequence: help VPTAGKLTVVILEAKNLKKM D VGGLSDPYVKIHLMQNGKRL
Residue conservation: help 
Human                         VPTA---GKLTVV-------------------------------ILEAKNLKKMD-------------VGGLSDPYVKIH-------------LMQNGKRL

Mouse                         VPTA---GKLTVV----------------------------

Rat                           VPTA---GKLTVV----------------------------

Bovine                        VPTA---GKLTVV----------------------------

Chicken                       VPTA---GKLTVV----------------------------

Caenorhabditis elegans        VPTA---GKLTVV----------------------------

Baker's yeast                 NPSSSSSGNATLVQDDINVYSHIINDTLNEVNLFPEVSKYW
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 422 Synaptotagmin-1
Topological domain 81 – 422 Cytoplasmic
Domain 273 – 406 C2 2
Region 136 – 382 Phospholipid binding
Binding site 304 – 304
Binding site 304 – 304
Binding site 310 – 310
Beta strand 304 – 307



Literature citations
SYT1-associated neurodevelopmental disorder: a case series.
Baker K.; Gordon S.L.; Melland H.; Bumbak F.; Scott D.J.; Jiang T.J.; Owen D.; Turner B.J.; Boyd S.G.; Rossi M.; Al-Raqad M.; Elpeleg O.; Peck D.; Mancini G.M.S.; Wilke M.; Zollino M.; Marangi G.; Weigand H.; Borggraefe I.; Haack T.; Stark Z.; Sadedin S.; Tan T.Y.; Jiang Y.; Gibbs R.A.; Ellingwood S.; Amaral M.; Kelley W.; Kurian M.A.; Cousin M.A.; Raymond F.L.;
Brain 141:2576-2591(2018)
Cited for: INVOLVEMENT IN BAGOS; VARIANTS BAGOS LYS-303; GLY-304; GLU-366; THR-368 AND LYS-371; CHARACTERIZATION OF VARIANTS BAGOS LYS-303; GLY-304; GLU-366; THR-368 AND LYS-371;
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.