UniProtKB/SwissProt variant VAR_085098

Sequence information
Variant position:  322
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:  360
The length of the canonical sequence.
Location on the sequence:  

IEVEQALAHPYLEQYYDPSD

 E PIAEAPFKFDMELDDLPKEK

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                         IEVEQALAHPYLEQYYDPSDEPIAEAPFKFDMELDDLPKEK

Mouse                         IEVEQALAHPYLEQYYDPSDEPIAEAPFKFDMELDDLPKEK

Rat                           IEVEQALAHPYLEQYYDPSDEPIAEAPFKFDMELDDLPKEK

Bovine                        IEVEQALAHPYLEQYYDPSDEPVAEAPFKFDMELDDLPKEK

Xenopus laevis                IEVEAALAHPYLEQYYDPSDEPVAEAPFKFEMELDDLPKET

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 2 – 360 Mitogen-activated protein kinase 1
Motif 318 – 322 Cytoplasmic retention motif
Mutagenesis 318 – 318 D -> A. Loss of dephosphorylation by PTPRJ.
Mutagenesis 318 – 318 D -> N. Inhibits interaction with MAP2K1 but not with TPR; when associated with N-321.
Mutagenesis 321 – 321 D -> N. Inhibits interaction with MAP2K1 but not with TPR; when associated with N-318.
Literature citations

Enhanced MAPK1 function causes a neurodevelopmental disorder within the RASopathy clinical spectrum.

Motta M.; Pannone L.; Pantaleoni F.; Bocchinfuso G.; Radio F.C.; Cecchetti S.; Ciolfi A.; Di Rocco M.; Elting M.W.; Brilstra E.H.; Boni S.; Mazzanti L.; Tamburrino F.; Walsh L.; Payne K.; Fernandez-Jaen A.; Ganapathi M.; Chung W.K.; Grange D.K.; Dave-Wala A.; Reshmi S.C.; Bartholomew D.W.; Mouhlas D.; Carpentieri G.; Bruselles A.; Pizzi S.; Bellacchio E.; Piceci-Sparascio F.; Lissewski C.; Brinkmann J.; Waclaw R.R.; Waisfisz Q.; van Gassen K.; Wentzensen I.M.; Morrow M.M.; Alvarez S.; Martinez-Garcia M.; De Luca A.; Memo L.; Zampino G.; Rossi C.; Seri M.; Gelb B.D.; Zenker M.; Dallapiccola B.; Stella L.; Prada C.E.; Martinelli S.; Flex E.; Tartaglia M.;

Am. J. Hum. Genet. 107:499-513(2020)

Cited for: VARIANTS NS13 ASN-74; TYR-80; VAL-174; ASN-318; GLY-318; GLN-322 AND ARG-323; INVOLVEMENT IN NS13; CHARACTERIZATION OF VARIANTS NS13 ASN-74; TYR-80; VAL-174; ASN-318; GLY-318 AND ARG-323; SUBCELLULAR LOCATION; FUNCTION; INTERACTION WITH MAP2K1 AND DUSP6;

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.

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