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UniProtKB/Swiss-Prot P98161: Variant p.Thr2083Ile

Polycystin-1
Gene: PKD1
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Variant information Variant position: help 2083
Type of variant: help LP/P [Disclaimer]
Residue change: help From Threonine (T) to Isoleucine (I) at position 2083 (T2083I, p.Thr2083Ile).
Physico-chemical properties: help Change from medium size and polar (T) to medium size and hydrophobic (I)
BLOSUM score: help -1
Variant description: help In PKD1.
Other resources: help


Sequence information Variant position: help 2083
Protein sequence length: help 4303
Location on the sequence: help YVALQSGPCFTNRSAQFEAA T SPSPRRVAYHWDFGDGSPGQ
Residue conservation: help 
Human                         YVALQSGPCFTNRSAQFEAATSPSPRRVAYHWDFGDGSPGQ

Mouse                         YVTLQSGRCFTNRSARFEAATSPSPRRVTYHWDFGDGTPVQ

Caenorhabditis elegans        --------YVTAWNVTYDNSTVGSTSQKNTSFSF--NIPVS

Slime mold                    ----------TNQSLQFSTTQP-------------------
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 24 – 4303 Polycystin-1
Topological domain 24 – 3074 Extracellular
Domain 2060 – 2148 PKD 17
Glycosylation 2074 – 2074 N-linked (GlcNAc...) asparagine



Literature citations
Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.
Inoue S.; Inoue K.; Utsunomiya M.; Nozaki J.; Yamada Y.; Iwasa T.; Mori E.; Yoshinaga T.; Koizumi A.;
Hum. Mutat. 19:622-628(2002)
Cited for: VARIANTS PKD1 ILE-2083; ARG-2814 AND PRO-2816; VARIANTS MET-87 AND MET-3510;
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.