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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15465: Variant p.Ala376Asp

Sonic hedgehog protein
Gene: SHH
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Variant information Variant position: help 376
Type of variant: help LP/P [Disclaimer]
Residue change: help From Alanine (A) to Aspartate (D) at position 376 (A376D, p.Ala376Asp).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and acidic (D)
BLOSUM score: help -2
Variant description: help In HPE3.


Sequence information Variant position: help 376
Protein sequence length: help 462
Location on the sequence: help INRVLASCYAVIEEHSWAHR A FAPFRLAHALLAALAPARTD
Residue conservation: help 
Human                         INRVLASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTD--

Mouse                         INRVLASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTD

Rat                           INRVLASCYAVIEEHSWAHRAFAPFRLAHALLAALAPARTD

Chicken                       INRVLASCYAVIEEHSWAHWAFAPFRLAQGLLAALCP----

Xenopus laevis                IDQVLASCYAVIEEHTWAHLAFAPLRFGMSLSSYIYPRDSS

Zebrafish                     VDRILASCYAVIEDQGLAHLAFAPARLYYYVSSFLFPQNSS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 24 – 462 Sonic hedgehog protein



Literature citations
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.