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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12755: Variant p.Gly34Asp

Ski oncogene
Gene: SKI
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Variant information Variant position: help 34
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Aspartate (D) at position 34 (G34D, p.Gly34Asp).
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (D)
BLOSUM score: help -1
Variant description: help In SGS.
Other resources: help


Sequence information Variant position: help 34
Protein sequence length: help 728
Location on the sequence: help HPGLQKTLEQFHLSSMSSLG G PAAFSARWAQEAYKKESAKE
Residue conservation: help
Human                         HPGLQKTLEQFHLSSMSSLGGPAAFSARWAQEAYKKESAKE

Mouse                         QPGLQKTLEQFHLSSMSSLGGPAV-SRRAGQEAYKKESAKE

Horse                         HPGLQKTLEQFHLSSMSSLGGPAAFSARWAQEAYKKESAKE

Chicken                       HPGLQKTLEQFHLSSMSSLGGPAAFSARWAQEMYKKDNGK-

Xenopus laevis                HAGLQKTLEQFHLSSMSSLGGPAAFSARWTQDLYKKECGK-

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 728 Ski oncogene



Literature citations
Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
Doyle A.J.; Doyle J.J.; Bessling S.L.; Maragh S.; Lindsay M.E.; Schepers D.; Gillis E.; Mortier G.; Homfray T.; Sauls K.; Norris R.A.; Huso N.D.; Leahy D.; Mohr D.W.; Caulfield M.J.; Scott A.F.; Destree A.; Hennekam R.C.; Arn P.H.; Curry C.J.; Van Laer L.; McCallion A.S.; Loeys B.L.; Dietz H.C.;
Nat. Genet. 44:1249-1254(2012)
Cited for: VARIANTS SGS ARG-21; VAL-32; ASP-34; CYS-34; SER-34; SER-35; 95-ASP--SER-97 DEL; GLU-116 AND ARG-117; The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
Schepers D.; Doyle A.J.; Oswald G.; Sparks E.; Myers L.; Willems P.J.; Mansour S.; Simpson M.A.; Frysira H.; Maat-Kievit A.; Van Minkelen R.; Hoogeboom J.M.; Mortier G.R.; Titheradge H.; Brueton L.; Starr L.; Stark Z.; Ockeloen C.; Lourenco C.M.; Blair E.; Hobson E.; Hurst J.; Maystadt I.; Destree A.; Girisha K.M.; Miller M.; Dietz H.C.; Loeys B.; Van Laer L.;
Eur. J. Hum. Genet. 23:224-228(2015)
Cited for: VARIANTS SGS THR-28; LEU-31; VAL-32; VAL-34; ALA-34; ASP-34; SER-34 AND SER-35;
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.