Sequence information
Variant position: 324 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 671 The length of the canonical sequence.
Location on the sequence:
LKKEYSNENAVVKRMQSLQL
D CVAVPSSRSNSATEQPGSLH
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 LKKEYSNENAVVKRMQSLQLD CVAVPSSRSNSATEQPGSLH
Mouse LKKEYPDQSPVLQRMFSLQHD CVPLPPSRSNS--EQPGSLH
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
Chain
1 – 671
Receptor-interacting serine/threonine-protein kinase 1
Region
290 – 582
Interaction with SQSTM1
Site
324 – 325
Cleavage; by CASP8
Modified residue
320 – 320
Phosphoserine; by MAP3K7
Modified residue
331 – 331
Phosphoserine; by MAP3K7
Modified residue
333 – 333
Phosphoserine; by MAP3K7
Mutagenesis
324 – 324
D -> K. Abolishes cleavage by caspase-8.
Literature citations
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease.
Lalaoui N.; Boyden S.E.; Oda H.; Wood G.M.; Stone D.L.; Chau D.; Liu L.; Stoffels M.; Kratina T.; Lawlor K.E.; Zaal K.J.M.; Hoffmann P.M.; Etemadi N.; Shield-Artin K.; Biben C.; Tsai W.L.; Blake M.D.; Kuehn H.S.; Yang D.; Anderton H.; Silke N.; Wachsmuth L.; Zheng L.; Moura N.S.; Beck D.B.; Gutierrez-Cruz G.; Ombrello A.K.; Pinto-Patarroyo G.P.; Kueh A.J.; Herold M.J.; Hall C.; Wang H.; Chae J.J.; Dmitrieva N.I.; McKenzie M.; Light A.; Barham B.K.; Jones A.; Romeo T.M.; Zhou Q.; Aksentijevich I.; Mullikin J.C.; Gross A.J.; Shum A.K.; Hawkins E.D.; Masters S.L.; Lenardo M.J.; Boehm M.; Rosenzweig S.D.; Pasparakis M.; Voss A.K.; Gadina M.; Kastner D.L.; Silke J.;
Nature 577:103-108(2020)
Cited for: INVOLVEMENT IN AIEFL; VARIANTS AIEFL ASN-324; HIS-324 AND TYR-324; CHARACTERIZATION OF VARIANTS AIEFL ASN-324; HIS-324 AND TYR-324; CLEAVAGE BY CASP8; 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.