UniProtKB/SwissProt variant VAR

SH3 domain-binding protein 2
Gene: SH3BP2
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Variant information Variant position:

415
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Glutamine (Q) at position 415 (R415Q, p.Arg415Gln).
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score:

1
Variant description:

In CRBM.
Other resources:

Variant rs121909149 [ dbSNP | Ensembl ]

Sequence information Variant position:

415
Protein sequence length:

561
Location on the sequence:

AMARPAVLPRPEKPQLPHLQ R SPPDGQSFRSFSFEKPRQPS
Residue conservation:

Human                         AMARPAVLPRPEKPQLPHLQRSPPDGQSFRSFSFEKPRQPS

Mouse                         ATVRPAVLPRPENTPLPHLQRSPPDGQSFRGFSFEKARQPS

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 561	SH3 domain-binding protein 2
Region	333 – 451	Disordered
Modified residue	416 – 416	Phosphoserine
Modified residue	427 – 427	Phosphoserine
Alternative sequence	98 – 561	Missing. In isoform 2.

Literature citations
Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.
Ueki Y.; Tiziani V.; Santanna C.; Fukai N.; Maulik C.; Garfinkle J.; Ninomiya C.; doAmaral C.; Peters H.; Habal M.; Rhee-Morris L.; Doss J.B.; Kreiborg S.; Olsen B.R.; Reichenberger E.;
Nat. Genet. 28:125-126(2001)
Cited for: VARIANTS CRBM GLN-415; PRO-415; ARG-418; HIS-418; LEU-418; ARG-420 AND GLU-420;

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 P78314: Variant p.Arg415Gln