Variant position: 237 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1244 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 IWASIVGYLALPQPDKKGLS TSLGILADIFVSMSKNDYEKF
Mouse IWASVIGYLTLPQPDKKGIS TSLGILADIFVSMSKTDYEKF
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 – 1244 Alpha-protein kinase 1
236 – 237 ADP-D-glycero-beta-D-manno-heptose binding
231 – 231 ADP-D-glycero-beta-D-manno-heptose
233 – 233 ADP-D-glycero-beta-D-manno-heptose
231 – 231 D -> A. Impaired ADP-D-glycero-beta-D-manno-heptose-binding and ability to activate the serine/threonine-protein kinase activity; when associated with A-67.
233 – 233 K -> A. Impaired ADP-D-glycero-beta-D-manno-heptose-binding and ability to activate the serine/threonine-protein kinase activity.
237 – 237 T -> E. Impaired ADP-D-glycero-beta-D-manno-heptose-binding and ability to activate the serine/threonine-protein kinase activity; when associated with K-295.
232 – 248
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
Williams L.B.; Javed A.; Sabri A.; Morgan D.J.; Huff C.D.; Grigg J.R.; Heng X.T.; Khng A.J.; Hollink I.H.I.M.; Morrison M.A.; Owen L.A.; Anderson K.; Kinard K.; Greenlees R.; Novacic D.; Nida Sen H.; Zein W.M.; Rodgers G.M.; Vitale A.T.; Haider N.B.; Hillmer A.M.; Ng P.C.; Shankar A.; Cheng A.; Zheng L.; Gillies M.C.; van Slegtenhorst M.; van Hagen P.M.; Missotten T.O.A.R.; Farley G.L.; Polo M.; Malatack J.; Curtin J.; Martin F.; Arbuckle S.; Alexander S.I.; Chircop M.; Davila S.; Digre K.B.; Jamieson R.V.; DeAngelis M.M.;
Genet. Med. 21:2103-2115(2019)
Cited for: VARIANT ROSAH MET-237; INVOLVEMENT IN ROSAH; TISSUE SPECIFICITY; FUNCTION; SUBCELLULAR LOCATION;
Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1.
Zhong L.; Wang J.; Wang W.; Wang L.; Quan M.; Tang X.; Gou L.; Wei M.; Xiao J.; Zhang T.; Sui R.; Zhou Q.; Song H.;
J. Clin. Immunol. 40:350-358(2020)
Cited for: VARIANT ROSAH MET-237; INVOLVEMENT IN ROSAH;
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.