Variant position: 238 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 570 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 RCDDAITPLLNQWTYQAMVH ELLGINNNRIDLSRVPGISKD
Mouse RCDDAITPLLNQWTYQAMVH ELLGINNNRIDLSRVPGISKD
Rat RCDDAITPLLNQWTYQAMVH ELLGINNNRIDLSRVPGISKD
Slime mold RKDDPITPLLHQWTYQAMIH ELLTINNNRVSLAKAPGIKDE
Baker's yeast RNTDPITPLLQPWTYQSMIN EYIGIKRNIVDLSKVPRIDKD
Fission yeast RKNDPITPLLTQWTYQAMVH ELFGIDNGRVSFSNSTSDNEK
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
1 – 570 Vacuolar protein sorting-associated protein 45
A congenital neutrophil defect syndrome associated with mutations in VPS45.
Vilboux T.; Lev A.; Malicdan M.C.; Simon A.J.; Jarvinen P.; Racek T.; Puchalka J.; Sood R.; Carrington B.; Bishop K.; Mullikin J.; Huizing M.; Garty B.Z.; Eyal E.; Wolach B.; Gavrieli R.; Toren A.; Soudack M.; Atawneh O.M.; Babushkin T.; Schiby G.; Cullinane A.; Avivi C.; Polak-Charcon S.; Barshack I.; Amariglio N.; Rechavi G.; van der Werff ten Bosch J.; Anikster Y.; Klein C.; Gahl W.A.; Somech R.;
N. Engl. J. Med. 369:54-65(2013)
Cited for: VARIANTS SCN5 ASN-224 AND LYS-238;
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