Table 8. [Notable MYH9 Pathogenic Variants]. - GeneReviews®

Reference Sequences	DNA Nucleotide Change	Predicted Protein Change	MYH9 Protein	Comment [Reference]
NM_002473.4 NP_002464.1	c.279C>G	p.Asn93Lys	Head	SH3/MD i
c.287C>T	p.Ser96Leu	Head	SH3/MD i
c.2104C>T	p.Arg702Cys	Head	SH1 helix	Assoc w/most severe phenotype ¹
c.2105G>A	p.Arg702His	Head	SH1 helix
c.3493C>T	p.Arg1165Cys	Tail	Coiled-coil	Assoc w/high risk for hearing loss & low risk for nephropathy & cataract ¹
c.3494G>T	p.Arg1165Leu	Tail	Coiled-coil
c.4270G>C	p.Asp1424His	Tail	Coiled-coil	Assoc w/intermediate-to-high risk of developing disease manifestations over time ¹
c.4270G>A	p.Asp1424Asn	Tail	Coiled-coil	Assoc w/thrombocytopenia, but low risk of developing other disease manifestations over time ¹
c.4270G>T	p.Asp1424Tyr	Tail	Coiled-coil
c.4340A>T	p.Asp1447Val	Tail	Coiled-coil
c.5521G>A	p.Glu1841Lys	Tail	Coiled-coil	Assoc w/thrombocytopenia, but low risk of developing other disease manifestations over time ¹
c.5797C>T	p.Arg1933Ter	Tail	NHT	Thrombocytopenia usually remains only disease manifestation throughout life ¹ [Pecci et al 2014a].
c.5821delG	p.Asp1941MetfsTer7	Tail	NHT

Reference Sequences

DNA
Nucleotide
Change

Predicted
Protein
Change

MYH9 Protein

Comment [Reference]

Domain

Region

NM_002473.4
NP_002464.1

c.279C>G

p.Asn93Lys

Head

SH3/MD i

c.287C>T

p.Ser96Leu

Head

SH3/MD i

c.2104C>T

p.Arg702Cys

Head

SH1 helix

Assoc w/most severe phenotype ¹

c.2105G>A

p.Arg702His

Head

SH1 helix

c.3493C>T

p.Arg1165Cys

Tail

Coiled-coil

Assoc w/high risk for hearing loss & low risk for nephropathy & cataract ¹

c.3494G>T

p.Arg1165Leu

Tail

Coiled-coil

c.4270G>C

p.Asp1424His

Tail

Coiled-coil

Assoc w/intermediate-to-high risk of developing disease manifestations over time ¹

c.4270G>A

p.Asp1424Asn

Tail

Coiled-coil

Assoc w/thrombocytopenia, but low risk of developing other disease manifestations over time ¹

c.4270G>T

p.Asp1424Tyr

Tail

Coiled-coil

c.4340A>T

p.Asp1447Val

Tail

Coiled-coil

c.5521G>A

p.Glu1841Lys

Tail

Coiled-coil

Assoc w/thrombocytopenia, but low risk of developing other disease manifestations over time ¹

c.5797C>T

p.Arg1933Ter

Tail

NHT

Thrombocytopenia usually remains only disease manifestation throughout life ¹ [Pecci et al 2014a].

c.5821delG

p.Asp1941MetfsTer7

Tail

NHT

From: MYH9-Related Disease

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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