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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8IZF0: Variant p.Thr1165Pro

Sodium leak channel NALCN
Gene: NALCN
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Variant information Variant position: help 1165
Type of variant: help LP/P [Disclaimer]
Residue change: help From Threonine (T) to Proline (P) at position 1165 (T1165P, p.Thr1165Pro).
Physico-chemical properties: help Change from medium size and polar (T) to medium size and hydrophobic (P)
BLOSUM score: help -1
Variant description: help In CLIFAHDD.
Other resources: help


Sequence information Variant position: help 1165
Protein sequence length: help 1738
Location on the sequence: help MIGLTLFVGVVIANFNENKG T ALLTVDQRRWEDLKSRLKIA
Residue conservation: help 
Human                         MIGLTLFVGVVIANFNENKGTALLTVDQRRWEDLKSRLKIA

Mouse                         MIGLTLFVGVVIANFNENKGTALLTVDQRRWEDLKSRLKIA

Rat                           MIGLTLFVGVVIANFNENKGTALLTVDQRRWEDLKSRLKIA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1738 Sodium leak channel NALCN
Topological domain 1160 – 1210 Cytoplasmic
Alternative sequence 219 – 1738 Missing. In isoform 3.
Alternative sequence 669 – 1738 Missing. In isoform 2.



Literature citations
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Chong J.X.; McMillin M.J.; Shively K.M.; Beck A.E.; Marvin C.T.; Armenteros J.R.; Buckingham K.J.; Nkinsi N.T.; Boyle E.A.; Berry M.N.; Bocian M.; Foulds N.; Uzielli M.L.; Haldeman-Englert C.; Hennekam R.C.; Kaplan P.; Kline A.D.; Mercer C.L.; Nowaczyk M.J.; Klein Wassink-Ruiter J.S.; McPherson E.W.; Moreno R.A.; Scheuerle A.E.; Shashi V.; Stevens C.A.; Carey J.C.; Monteil A.; Lory P.; Tabor H.K.; Smith J.D.; Shendure J.; Nickerson D.A.; Bamshad M.J.;
Am. J. Hum. Genet. 96:462-473(2015)
Cited for: INVOLVEMENT IN CLIFAHDD; VARIANTS CLIFAHDD PRO-177; ILE-312; GLY-313; SER-509; SER-578; PHE-590; PRO-1165 AND MET-1446; CHARACTERIZATION OF VARIANTS CLIFAHDD SER-509 AND SER-578;
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.