UniProtKB/SwissProt variant VAR

Myosin-6
Gene: MYH6
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Variant information Variant position:

820
Type of variant:

LP/P [Disclaimer]
Residue change:

From Isoleucine (I) to Asparagine (N) at position 820 (I820N, p.Ile820Asn).
Physico-chemical properties:

Change from medium size and hydrophobic (I) to medium size and polar (N)
BLOSUM score:

-3
Variant description:

In ASD3.
Other resources:

Variant rs267606903 [ dbSNP | Ensembl ]

Sequence information Variant position:

820
Protein sequence length:

1939
Location on the sequence:

RIEFKKIVERRDALLVIQWN I RAFMGVKNWPWMKLYFKIKP
Residue conservation:

Human                         RIEFKKIVERRDALLVIQWNIRAFMGVKNWPWMKLYFKIKP

Mouse                         RIEFKKIVERRDALLVIQWNIRAFMGVKNWPWMKLYFKIKP

Rat                           RIEFKKMVERRDALLVIQWNIRAFMGVKNWPWMKLYFKIKP

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 1939	Myosin-6

Literature citations
Mutation in myosin heavy chain 6 causes atrial septal defect.
Ching Y.-H.; Ghosh T.K.; Cross S.J.; Packham E.A.; Honeyman L.; Loughna S.; Robinson T.E.; Dearlove A.M.; Ribas G.; Bonser A.J.; Thomas N.R.; Scotter A.J.; Caves L.S.D.; Tyrrell G.P.; Newbury-Ecob R.A.; Munnich A.; Bonnet D.; Brook J.D.;
Nat. Genet. 37:423-428(2005)
Cited for: VARIANT ASD3 ASN-820;

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 P13533: Variant p.Ile820Asn