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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P55795: Variant p.Arg206Gln

Heterogeneous nuclear ribonucleoprotein H2
Gene: HNRNPH2
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Variant information Variant position: help 206
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glutamine (Q) at position 206 (R206Q, p.Arg206Gln).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score: help 1
Variant description: help In MRXSB.
Other resources: help


Sequence information Variant position: help 206
Protein sequence length: help 449
Location on the sequence: help SSRAEVRTHYDPPRKLMAMQ R PGPYDRPGAGRGYNSIGRGA
Residue conservation: help
Human                         SSRAEVRTHYDPPRKLMAMQRPGPYDRPGAGRGYNSIGRGA

Mouse                         SSRAEVRTHYDPPRKLMTMQRPGPYDRPGAGRGYNSIGRGA

Rat                           SSRAEVRTHYDPPRKLMTMQRPGPYDRPGAGRGYNSIGRGA

Bovine                        SSRAEVRTHYDPPRKLMAMQRPGPYDRPGAGRGYNSIGRGA

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 449 Heterogeneous nuclear ribonucleoprotein H2
Chain 2 – 449 Heterogeneous nuclear ribonucleoprotein H2, N-terminally processed



Literature citations
Variants in HNRNPH2 on the X chromosome are associated with a neurodevelopmental disorder in females.
Bain J.M.; Cho M.T.; Telegrafi A.; Wilson A.; Brooks S.; Botti C.; Gowans G.; Autullo L.A.; Krishnamurthy V.; Willing M.C.; Toler T.L.; Ben-Zev B.; Elpeleg O.; Shen Y.; Retterer K.; Monaghan K.G.; Chung W.K.;
Am. J. Hum. Genet. 99:728-734(2016)
Cited for: VARIANTS MRXSB GLN-206; TRP-206 AND LEU-209; CHARACTERIZATION OF VARIANTS MRXSB GLN-206; TRP-206 AND LEU-209; INVOLVEMENT IN MRXSB;
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.