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UniProtKB/Swiss-Prot Q7Z4N2: Variant p.Pro399Thr

Transient receptor potential cation channel subfamily M member 1
Gene: TRPM1
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Variant information Variant position: help 399
Type of variant: help LB/B
Residue change: help From Proline (P) to Threonine (T) at position 399 (P399T, p.Pro399Thr).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to medium size and polar (T)
BLOSUM score: help -1
Other resources: help


Sequence information Variant position: help 399
Protein sequence length: help 1603
Location on the sequence: help LAWNRVDIARSQIFVFGPHW P PLGSLAPPTDSKATEKEKKP
Residue conservation: help 
Human                         LAWNRVDIARSQIFVFGPHWPPLGSLAPPTDSKATEKEKKP

Mouse                         LAWNRVDIARSQIFVFGPHWPPLGSLAPPVDTKATEKEKKP

Rat                           LAWNRVDIARSQIFVFGPHWPPLGSLAPPVDTKVAEKEKKP
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1603 Transient receptor potential cation channel subfamily M member 1
Topological domain 1 – 830 Cytoplasmic
Alternative sequence 137 – 1603 Missing. In isoform 7.
Alternative sequence 301 – 1603 Missing. In isoform 4.



Literature citations
Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1).
Hunter J.J.; Shao J.; Smutko J.S.; Dussault B.J.; Nagle D.L.; Woolf E.A.; Holmgren L.M.; Moore K.J.; Shyjan A.W.;
Genomics 54:116-123(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS THR-399 AND GLN-1498; TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
Audo I.; Kohl S.; Leroy B.P.; Munier F.L.; Guillonneau X.; Mohand-Said S.; Bujakowska K.; Nandrot E.F.; Lorenz B.; Preising M.; Kellner U.; Renner A.B.; Bernd A.; Antonio A.; Moskova-Doumanova V.; Lancelot M.E.; Poloschek C.M.; Drumare I.; Defoort-Dhellemmes S.; Wissinger B.; Leveillard T.; Hamel C.P.; Schorderet D.F.; De Baere E.; Berger W.; Jacobson S.G.; Zrenner E.; Sahel J.A.; Bhattacharya S.S.; Zeitz C.;
Am. J. Hum. Genet. 85:720-729(2009)
Cited for: VARIANTS CSNB1C CYS-72; PRO-99; PRO-473 AND LYS-541; VARIANTS TRP-6; ASN-32; THR-399; MET-605; HIS-1161; THR-1229; THR-1379; ILE-1395; TRP-1422 AND GLN-1498;
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.