UniProtKB/SwissProt variant VAR

GTPase HRas
Gene: HRAS
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Variant information Variant position:

146
Type of variant:

LP/P [Disclaimer]
Residue change:

From Alanine (A) to Valine (V) at position 146 (A146V, p.Ala146Val).
Physico-chemical properties:

Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
BLOSUM score:

0
Variant description:

In CSTLO.
Other resources:

Variant rs121917759 [ dbSNP | Ensembl ]

Sequence information Variant position:

146
Protein sequence length:

189
Location on the sequence:

ESRQAQDLARSYGIPYIETS A KTRQGVEDAFYTLVREIRQH
Residue conservation:

Human                         ESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQH

Mouse                         ESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQH

Rat                           ESRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQH

Chicken                       ETRQAQDLARSYGIPYIETSAKTRQGVEDAFYTLVREIRQH

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 186	GTPase HRas
Chain	2 – 186	GTPase HRas, N-terminally processed
Binding site	145 – 147
Mutagenesis	144 – 144	T -> I. GTP-binding activity reduced by factor of 25.
Turn	146 – 148

Literature citations
Costello syndrome associated with novel germline HRAS mutations: an attenuated phenotype?
Gripp K.W.; Innes A.M.; Axelrad M.E.; Gillan T.L.; Parboosingh J.S.; Davies C.; Leonard N.J.; Lapointe M.; Doyle D.; Catalano S.; Nicholson L.; Stabley D.L.; Sol-Church K.;
Am. J. Med. Genet. A 146:683-690(2008)
Cited for: VARIANTS CSTLO ILE-58 AND VAL-146;

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 P01112: Variant p.Ala146Val