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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15465: Variant p.Glu188Gln

Sonic hedgehog protein
Gene: SHH
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Variant information Variant position: help 188
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamate (E) to Glutamine (Q) at position 188 (E188Q, p.Glu188Gln).
Physico-chemical properties: help Change from medium size and acidic (E) to medium size and polar (Q)
BLOSUM score: help 2
Variant description: help In HPE3; familial.
Other resources: help


Sequence information Variant position: help 188
Protein sequence length: help 462
Location on the sequence: help AGFDWVYYESKAHIHCSVKA E NSVAAKSGGCFPGSATVHLE
Residue conservation: help
Human                         AGFDWVYYESKAHIHCSVKAENSVAAKSGGCFPGSATVHLE

Mouse                         AGFDWVYYESKAHIHCSVKAENSVAAKSGGCFPGSATVHLE

Rat                           AGFDWVYYESKARIHCSVKAENSVAAKSDGCFPGSATVHLE

Chicken                       AGFDWVYYESKAHIHCSVKAENSVAAKSGGCFPGSATVHLE

Xenopus laevis                AGFDWVYYESKAHIHCSVKAENSVAAKSGGCFPAGARVMVE

Zebrafish                     AGFDWVYYESKAHIHCSVKAENSVAAKSGGCFPGSALVSLQ

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 24 – 462 Sonic hedgehog protein
Chain 24 – 197 Sonic hedgehog protein N-product
Binding site 182 – 182
Lipidation 197 – 197 Cholesterol glycine ester
Helix 188 – 190



Literature citations
Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.
Odent S.; Atti-Bitach T.; Blayau M.; Mathieu M.; Aug J.; Delezo de A.L.; Gall J.Y.; Le Marec B.; Munnich A.; David V.; Vekemans M.;
Hum. Mol. Genet. 8:1683-1689(1999)
Cited for: VARIANTS HPE3 HIS-100; GLN-188 AND ASN-222; Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations.
Dubourg C.; Lazaro L.; Pasquier L.; Bendavid C.; Blayau M.; Le Duff F.; Durou M.-R.; Odent S.; David V.;
Hum. Mutat. 24:43-51(2004)
Cited for: VARIANTS HPE3 THR-6; HIS-100; 106-LEU-ASN-107 DEL; ASP-110; ARG-150; 176-GLU--LYS-178 DEL; GLN-188; ASN-222; PRO-271; ALA-332; GLN-347; THR-354 AND PRO-381; Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly.
Maity T.; Fuse N.; Beachy P.A.;
Proc. Natl. Acad. Sci. U.S.A. 102:17026-17031(2005)
Cited for: CHARACTERIZATION OF VARIANTS HPE3 ARG-31; VAL-88; HIS-100; LYS-115; ARG-117; GLY-117 AND GLN-188; The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
Roessler E.; El-Jaick K.B.; Dubourg C.; Velez J.I.; Solomon B.D.; Pineda-Alvarez D.E.; Lacbawan F.; Zhou N.; Ouspenskaia M.; Paulussen A.; Smeets H.J.; Hehr U.; Bendavid C.; Bale S.; Odent S.; David V.; Muenke M.;
Hum. Mutat. 30:E921-E935(2009)
Cited for: VARIANTS HPE3 THR-6; PRO-17; LEU-26; ALA-27; ARG-31; PRO-39; LYS-53; VAL-83; PHE-84; VAL-88; HIS-100; ARG-102; TYR-102; 106-LEU-ASN-107 DEL; PHE-109; THR-110; ASP-110; PHE-111; ASN-111; LYS-115; GLY-117; ARG-117; MET-124; LYS-136; PRO-140; GLN-140; ASP-143; PRO-144; ASN-147; ARG-150; LYS-150; ARG-156; CYS-170; HIS-171; 176-GLU--LYS-178 DEL; ARG-183; PHE-183; TYR-183; LEU-184; GLN-188; GLU-196; 196-GLY--PRO-200 DEL; VAL-197; SER-198; PHE-198; PRO-218; ASN-222; GLU-224; THR-226; VAL-231; GLY-232; PRO-234; ARG-236; ASN-236; VAL-241; LEU-241; ASN-255; 263-ARG--ALA-269 DEL; ILE-267; PRO-271; GLU-275; TRP-280; ASP-290; ALA-296; CYS-310; SER-321; ALA-332; VAL-346; ARG-347; GLN-347; LEU-347; THR-354; LEU-362; TYR-363; CYS-364; THR-373; ARG-374; ASP-376; SER-377; 378-ALA--PHE-380 DEL; PRO-381; PRO-382; THR-383; THR-391; 402-GLY--GLY-409 DEL; 405-ASP--GLY-409 DEL; GLY-411 INS; ALA-416; ALA-424; ASN-435; LEU-436 AND ARG-456;
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.