Table 2. Selected LYST Pathologic Allelic Variants

DNA Nucleotide Change
(Alias 1)
Protein Amino Acid Change
(Alias 1)
Reference Sequences
c.118_119insGp.Ala40Glyfs*24
(Ala40fs*63)
NM_000081​.2
NP_000072​.2
c.148C>Tp.Arg50*
c.1467delGp.Glu489Aspfs*78
(Glu489fs*566)
c.1540C>Tp.Arg514*
c.1902dupA
(1897_1898insA)
p.Ala635Serfs*4
(Lys633fs*638)
c.2413delGp.Glu805Asnfs*2
(Glu805fs*806)
c.2454delAp.Ala819Hisfs5
Lys818fs*823
c.2623delT
(2620delT)
p.Tyr875Metfs*24
(Phe874fs*898)
c.3073_3074delAAp.Asn1025Glnfs*6
(Asn1025fs*1030)
c.3085C>Tp.Gln1029*
c.3310C>Tp.Arg1104*
c.3434dupA
(3434_3435insA)
p.His1145Glnfs*9
(His1145fs*1153)
c.4052C>Gp.Ser1351*
c.4361C>Ap.Ala1454Asp
c.4274delTp.Leu1425Tyrfs*2
(Leu1425fs*1426)
c.4688G>Ap.Arg1563His
c.5061T>Ap.Tyr1687*
c.5317delAp.Arg1773Aspfs*13
(Arg1773fs*1785
c.5996T>Ap.Val1999Asp
c.6078C>Ap.Tyr2026*
c.7060_7066delCTATTAGp.Leu2354Metfs*16
(Leu2354fs*2369)
c.7555delTp.Tyr2519Ilefs*10
(Tyr2519fs*2528)
c.8428G>Ap.Glu2810Lys
c.8583G>Ap.Trp2861*
c.9107_9162del56p.Gly3036Glufs*16
(Gly3036fs*3051)
c.9228_9229insTTCTTTCAGTp.Lys3077Phefs*4
(Lys3077fs*3080)
c.9590delAp.Tyr3197Leufs*62
(Tyr3197fs*3258)
c.9893delTp.Phe3298Serfs7
(Phe3298fs*3304)
c.10127A>Gp.Asn3376Ser
c.10395delAp.Gly3466Alafs*2
(Lys3465fs*3467)

Note on variant classification: Variants listed in the table have been provided by the author(s). GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (www​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1. Variant designation that does not conform to current naming conventions

From: Chediak-Higashi Syndrome

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