Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13635: Variant p.Pro1315Leu

Protein patched homolog 1
Gene: PTCH1
Feedback?
Variant information Variant position: help 1315
Type of variant: help LB/B
Residue change: help From Proline (P) to Leucine (L) at position 1315 (P1315L, p.Pro1315Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Other resources: help


Sequence information Variant position: help 1315
Protein sequence length: help 1447
Location on the sequence: help PGRQGQQPRRDPPREGLWPP P YRPRRDAFEISTEGHSGPSN
Residue conservation: help 
Human                         PGRQGQQPRRDPPREGLWPPPYRPRRDAFEISTEGHSGPSN

Mouse                         PGRQGQQPRRDPPREGLRPPPYRPRRDAFEISTEGHSGPSN

Chicken                       VWHQGRQPKQE-VREGLRPPPYRPRRDAFEISTEGHSGPSN

Zebrafish                     ---------------------------------AGHIPKAS

Caenorhabditis elegans        ---------------------------------SRQAPPTT
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1447 Protein patched homolog 1
Topological domain 1176 – 1447 Cytoplasmic
Region 1270 – 1360 Disordered



Literature citations
Human homolog of patched, a candidate gene for the basal cell nevus syndrome.
Johnson R.L.; Rothman A.L.; Xie J.; Goodrich L.V.; Bare J.W.; Bonifas J.M.; Quinn A.G.; Myers R.M.; Cox D.R.; Epstein E.H. Jr.; Scott M.P.;
Science 272:1668-1671(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM L); VARIANTS BCNS1 PRO-175 AND PRO-ASN-ILE-815 INS; VARIANT LEU-1315; A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities.
Hahn H.; Christiansen J.; Wicking C.; Zaphiropolous P.G.; Chidambaram A.; Gerrard B.; Vorechovsky I.; Bale A.E.; Toftgard R.; Dean M.; Wainwright B.J.;
J. Biol. Chem. 271:12125-12128(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM S); VARIANT LEU-1315; Gorlin syndrome: identification of 4 novel germ-line mutations of the human patched (PTCH) gene.
Hasenpusch-Theil K.; Bataille V.; Laehdetie J.; Obermayr F.; Sampson J.R.; Frischauf A.-M.;
Hum. Mutat. 11:480-480(1998)
Cited for: VARIANT LEU-1315; Identification of PATCHED mutations in medulloblastomas by direct sequencing.
Dong J.; Gailani M.R.; Pomeroy S.L.; Reardon D.; Bale A.E.;
Hum. Mutat. 16:89-90(2000)
Cited for: VARIANT LEU-1315;
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.