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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15147: Variant p.Arg621Cys

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4
Gene: PLCB4
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Variant information Variant position: help 621 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Cysteine (C) at position 621 (R621C, p.Arg621Cys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In ARCND2A; pathogenic. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 621 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1175 The length of the canonical sequence.
Location on the sequence: help LGYLKTHAIEFVNYNKRQMS R IYPKGGRVDSSNYMPQIFWN 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LGYLKTHAIEFVNYNKRQMSRIYPKGGRVDSSNYMPQIFWN

Rat                           LGYLKTHAIEFVNYNKRQMSRIYPKGGRVDSSNYMPQIFWN
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 2 – 1175 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4
Domain 565 – 681 PI-PLC Y-box



Literature citations
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
Rieder M.J.; Green G.E.; Park S.S.; Stamper B.D.; Gordon C.T.; Johnson J.M.; Cunniff C.M.; Smith J.D.; Emery S.B.; Lyonnet S.; Amiel J.; Holder M.; Heggie A.A.; Bamshad M.J.; Nickerson D.A.; Cox T.C.; Hing A.V.; Horst J.A.; Cunningham M.L.;
Am. J. Hum. Genet. 90:907-914(2012)
Cited for: VARIANTS ARCND2A THR-329; HIS-621; CYS-621; CYS-623 AND HIS-650; Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
Gordon C.T.; Vuillot A.; Marlin S.; Gerkes E.; Henderson A.; Al-Kindy A.; Holder-Espinasse M.; Park S.S.; Omarjee A.; Sanchis-Borja M.; Bdira E.B.; Oufadem M.; Sikkema-Raddatz B.; Stewart A.; Palmer R.; McGowan R.; Petit F.; Delobel B.; Speicher M.R.; Aurora P.; Kilner D.; Pellerin P.; Simon M.; Bonnefont J.P.; Tobias E.S.; Garcia-Minaur S.; Bitner-Glindzicz M.; Lindholm P.; Meijer B.A.; Abadie V.; Denoyelle F.; Vazquez M.P.; Rotky-Fast C.; Couloigner V.; Pierrot S.; Manach Y.; Breton S.; Hendriks Y.M.; Munnich A.; Jakobsen L.; Kroisel P.; Lin A.; Kaban L.B.; Basel-Vanagaite L.; Wilson L.; Cunningham M.L.; Lyonnet S.; Amiel J.;
J. Med. Genet. 50:174-186(2013)
Cited for: VARIANTS ARCND2A VAL-358; ASN-360; VAL-360; CYS-621; LEU-621 AND HIS-621; INVOLVEMENT IN ARCND2A; INVOLVEMENT IN ARCND2B; Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Vegas N.; Demir Z.; Gordon C.T.; Breton S.; Romanelli Tavares V.L.; Moisset H.; Zechi-Ceide R.; Kokitsu-Nakata N.M.; Kido Y.; Marlin S.; Gherbi Halem S.; Meerschaut I.; Callewaert B.; Chung B.; Revencu N.; Lehalle D.; Petit F.; Propst E.J.; Papsin B.C.; Phillips J.H.; Jakobsen L.; Le Tanno P.; Thevenon J.; McGaughran J.; Gerkes E.H.; Leoni C.; Kroisel P.; Tan T.Y.; Henderson A.; Terhal P.; Basel-Salmon L.; Alkindy A.; White S.M.; Passos-Bueno M.R.; Pingault V.; De Pontual L.; Amiel J.;
Hum. Mutat. 43:582-594(2022)
Cited for: VARIANTS ARCND2A ARG-339; PHE-569; CYS-621 AND HIS-621; INVOLVEMENT IN ARCND2B;
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.