UniProtKB/SwissProt variant VAR

Transient receptor potential cation channel subfamily A member 1
Gene: TRPA1
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Variant information Variant position:

855
Type of variant:

LP/P [Disclaimer]
Residue change:

From Asparagine (N) to Serine (S) at position 855 (N855S, p.Asn855Ser).
Physico-chemical properties:

Change from medium size and polar (N) to small size and polar (S)
BLOSUM score:

1
Variant description:

In FEPS1; 5-fold increase in inward current when stimulated by the agonist cinnamaldehyde compared to wild-type at normal neuronal resting potential; consistent with a gain of function mutation.
Other resources:

Variant rs398123010 [ dbSNP | Ensembl ]

Sequence information Variant position:

855
Protein sequence length:

1119
Location on the sequence:

GAIAVYFYWMNFLLYLQRFE N CGIFIVMLEVILKTLLRSTV
Residue conservation:

Human                         GAIAVYFYWMNFLLYLQRFENCGIFIVMLEVILKTLLRSTV

Mouse                         GAIAIFFYWMNFLLYLQRFENCGIFIVMLEVIFKTLLRSTG

Rat                           GAIAIFFYWMNFLLYLQRFENCGIFIVMLEVIFKTLLRSTG

Caenorhabditis elegans        AALCIFFGWINLLFMIRKMPRFGIFVVMFVDIVKTFFRFFP

Drosophila                    ASIAVFLSWFRLLLFLQRFDQVGIYVVMFLEILQTLIKVLM

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 1119	Transient receptor potential cation channel subfamily A member 1
Topological domain	851 – 862	Cytoplasmic
Modified residue	856 – 856	Cysteine sulfenic acid (-SOH); transient; in hyperoxia
Disulfide bond	633 – 856	Alternate; transient; in hyperoxia; unknown whether inter- or intrachain
Mutagenesis	856 – 856	C -> S. Decrease in activation by hyperoxia and diallyl disulfide. Important decrease in activation by hyperoxia and diallyl disulfide; when associated with S-633.
Beta strand	851 – 856

Literature citations
A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome.
Kremeyer B.; Lopera F.; Cox J.J.; Momin A.; Rugiero F.; Marsh S.; Woods C.G.; Jones N.G.; Paterson K.J.; Fricker F.R.; Villegas A.; Acosta N.; Pineda-Trujillo N.G.; Ramirez J.D.; Zea J.; Burley M.W.; Bedoya G.; Bennett D.L.; Wood J.N.; Ruiz-Linares A.;
Neuron 66:671-680(2010)
Cited for: VARIANT FEPS1 SER-855; CHARACTERIZATION OF VARIANT FEPS1 SER-855; FUNCTION; SUBCELLULAR LOCATION; ACTIVITY REGULATION;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75762: Variant p.Asn855Ser