UniProtKB/SwissProt variant VAR

Transcriptional activator GLI3
Gene: GLI3
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Variant information Variant position:

707
Type of variant:

LP/P [Disclaimer]
Residue change:

From Proline (P) to Serine (S) at position 707 (P707S, p.Pro707Ser).
Physico-chemical properties:

Change from medium size and hydrophobic (P) to small size and polar (S)
BLOSUM score:

-1
Variant description:

In GCPS.
Other resources:

Variant rs121917716 [ dbSNP | Ensembl ]

Sequence information Variant position:

707
Protein sequence length:

1580
Location on the sequence:

EECLQVKTVKAEKPMTSQPS P GGQSSCSSQQSPISNYSNSG
Residue conservation:

Human                         EECLQVKTVKAEKPMTSQPSPGGQSSCSSQQSPISNYSNSG

Chimpanzee                    EECLQVKTVKAEKPMTSQPSPGGQSSCSSQQSPISNYSNSG

Mouse                         EECLQVKTVKAEKPMTSQPSPGGQSSCSSQQSPISNYSNSG

Xenopus laevis                EECLQVRSVKTEKPMSSQPSPGGKSSCSRQQSPISNYTNSG

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 1580	Transcriptional activator GLI3
Region	620 – 728	Disordered

Literature citations
Point mutations in human GLI3 cause Greig syndrome.
Wild A.; Kalff-Suske M.; Vortkamp A.; Bornholdt D.; Koenig R.; Grzeschik K.-H.;
Hum. Mol. Genet. 6:1979-1984(1997)
Cited for: VARIANT GCPS SER-707;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P10071: Variant p.Pro707Ser