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UniProtKB/Swiss-Prot P98161: Variant p.Leu87Met

Polycystin-1
Gene: PKD1
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Variant information Variant position: help 87
Type of variant: help LB/B
Residue change: help From Leucine (L) to Methionine (M) at position 87 (L87M, p.Leu87Met).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 2


Sequence information Variant position: help 87
Protein sequence length: help 4303
Location on the sequence: help ADATALDVSHNLLRALDVGL L ANLSALAELDISNNKISTLE
Residue conservation: help 
Human                         ADATALDVSHNLLRALDVGLLANLSALAELDISNNKISTLE

Mouse                         ADATALDLSHNLLQTLDIGLLVNLSALVELDLSNNRISTLE

Caenorhabditis elegans        -----LAISAIQIDGLHYQLLDGIATF-RLDNDDTTIG---

Slime mold                    ------------------------------------MS---
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 24 – 4303 Polycystin-1
Topological domain 24 – 3074 Extracellular
Repeat 68 – 91 LRR 1
Glycosylation 89 – 89 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.