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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13635: Variant p.Asp513Tyr

Protein patched homolog 1
Gene: PTCH1
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Variant information Variant position: help 513
Type of variant: help LP/P [Disclaimer]
Residue change: help From Aspartate (D) to Tyrosine (Y) at position 513 (D513Y, p.Asp513Tyr).
Physico-chemical properties: help Change from medium size and acidic (D) to large size and aromatic (Y)
BLOSUM score: help -3
Variant description: help In BCNS1.


Sequence information Variant position: help 513
Protein sequence length: help 1447
Location on the sequence: help ISFNAATTQVLPFLALGVGV D DVFLLAHAFSETGQNKRIPF
Residue conservation: help
Human                         ISFNAATTQVLPFLALGVGVDDVFLLAHAFSETGQNKRIPF

Mouse                         ISFNAATTQVLPFLALGVGVDDVFLLAHAFSETGQNKRIPF

Chicken                       ISFNAATTQVLPFLALGVGVDDVFLLAHAFSETGQNKRIPF

Zebrafish                     LSFNAATTQVLPSLALGIGVDDMFLLGHSFTETRSN--IPF

Caenorhabditis elegans        IEFNAATTQIVPFLTLGIGVDNMFMLLHNYRDV-----VKL

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1447 Protein patched homolog 1
Transmembrane 502 – 522 Helical
Domain 438 – 598 SSD
Helix 512 – 514



Literature citations
Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.
Wicking C.; Shanley S.; Smyth I.; Gillies S.; Negus K.; Graham S.; Suthers G.; Haites N.; Edwards M.; Wainwright B.J.; Chenevix-Trench G.;
Am. J. Hum. Genet. 60:21-26(1997)
Cited for: VARIANTS BCNS1 TYR-513 AND ARG-1069;
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.