UniProtKB/SwissProt variant VAR

Transcription cofactor HES-6
Gene: HES6
Feedback?

Variant information Variant position:

218
Type of variant:

LB/B
Residue change:

From Arginine (R) to Glutamine (Q) at position 218 (R218Q, p.Arg218Gln).
Physico-chemical properties:

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

1
Other resources:

Variant rs3739061 [ dbSNP | Ensembl ]

Sequence information Variant position:

218
Protein sequence length:

224
Location on the sequence:

AEGPDLVPAALGSLTTAQIA R SVWRPW
Residue conservation:

Human                         AEGPDLVPAALGSLTTAQIARSVWRPW

Mouse                         AEGPDLVSTSLGSLTAARRAQSVWRPW

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 224	Transcription cofactor HES-6
Alternative sequence	84 – 224	EREQLQAEASERFAAGYIQCMHEVHTFVSTCQAIDATVAAELLNHLLESMPLREGSSFQDLLGDALAGPPRAPGRSGWPAGGAPGSPIPSPPGPGDDLCSDLEEAPEAELSQAPAEGPDLVPAALGSLTTAQIARSVWRPW -> GEWRRGGRGRRPRAPVTPARRRTSLPAPLSCRRRGLPPEQGAPPRLLGEPRPRGPGGLGHAVAAHRAGRGSLPPTLGPRARAAAGGSERALRCRLHPVHARGAHVRVHVPGHRRYRRCRAPEPSARVHAAA. In isoform 2.
Alternative sequence	113 – 224	Missing. In isoform 4.

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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 Q96HZ4: Variant p.Arg218Gln