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Table 4 Human DMs identified as PCMs

From: Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations

Category HGMD
Acc. No 		Chr Chrom.
location 		Strand Disease Gene Mutation HGVS (cDNA)
nomenclature 		HGVS
(protein)
nomenclature 		Type
Covered by
both the
Neanderthal
and the
Denisovan
sequencea 		CM993347 Chr1 67633930 + Atopy IL12RB2 A > G:GAA NM_001559.2:
c.2159A > G 		NP_001550.1:
p.H720R 		Chimpanzee
  CM042258 Chr1 94337039 - Stargardt disease ABCA4 T > G:GGT NM_000350.2:
c.667A > C 		NP_000341.2:
p.K223Q 		Denisovan
and
chimpanzee
  CM070090 Chr1 167765599 - Thrombosis? F5 C > T:CTC NM_000130.4:
c.5290G > A 		NP_000121.2:
p.V1764M 		Denisovan
  CM099258 Chr15 40468491 + Muscular
dystrophy? 		CAPN3 G > A:AAA NM_000070.2:
c.706G > A 		NP_000061.1:
p.A236T 		Human
  CM085365* Chr15 43185730 - Hypothyroidism DUOX2 T > C:CCC NM_014080.4:
c.2033A > G 		NP_054799.4:
p.H678R 		Human
  CM984025* Chr19 18047618 - Mycobacterial
infection 		IL12RB1 T > C:CCT NM_005535.1:
c.641A > G 		NP_005526.1:
p.Q214R 		Denisovan
and
chimpanzee
  CM044918 Chr19 41022117 - Congenital
nephrotic
syndrome,
Finnish type 		NPHS1 C > G:GGG NM_004646.1:
c.2971G > C 		NP_004637.1:
p.V991L 		Human
  CM064230 Chr19 43656115 + Malignant
hyperthermia 		RYR1 A > G:GAA NM_000540.2:
c.4024A > G 		NP_000531.2:
p.S1342G 		Chimpanzee
  CM961339* Chr22 30836050 + Glucose/galactose
malabsorption 		SLC5A1 C > G:GGC NM_000343.1:
c.1845C > G 		NP_000334.1:
p.H615Q 		Denisovan
and
chimpanzee
  CM980573 Chr5 149341414 + Achondrogenesis
1B 		SLC26A2 A > T:TAT NM_000112.3:
c.2065A > T 		NP_000103.2:
p.T689S 		Neanderthal
and
chimpanzee
  CM043093 Chr6 25958824 - Glycogen storage
disease 1c? 		SLC17A3 C > T:TCC NM_006632.3:
c.601G > A 		NP_006623.2:
p.G201R 		Chimpanzee
  CM072814 Chr7 86894112 - Intrahepatic
cholestasis,
familial
progressive? 		ABCB4 T > C:CCC NM_000443.3:
c.1954A > G 		NP_000434.1:
p.R652G 		Human
  CM050323 Chr7 107129530 + Pendred
syndrome? 		SLC26A4 T > G:GTG NM_000441.1:
c.1826T > G 		NP_000432.1:
p.V609G 		Neanderthal
and
chimpanzee
  CM983990 Chr8 22032655 - Alopecia
universalis? 		HR T > C:CCC NM_005144.3:
c.3064A > G 		NP_005135.2:
p.T1022A 		Human
  CM099178* Chr8 118899878 - Multiple
osteochondromas 		EXT1 C > T:TCC NM_000127.2:
c.1609G > A 		NP_000118.2:
p.V537I 		Chimpanzee
  CM085353* ChrX 149390017 + Hypospadias MAMLD1 T > C:CYC NM_005491.2:
c.1514T > C 		NP_005482.2:
p.V505A 		Others
Covered
only by the
Denisovan
sequenceb 		CM043273 Chr1 195670491 + Retinitis
pigmentosa 		CRB1 G > A:AG NM_201253.1:
c.2875G > A 		NP_957705.1:
p.G959S 		Chimpanzee
  CM067436 Chr11 7020956 + Spermatogenic
failure 		NLRP14 G > A:AG NM_176822.3:
c.1123G > A 		NP_789792.1:
p.A375T 		Chimpanzee
  CM043536 Chr11 47326617 - Cardiomyopathy,
hypertrophic? 		MYBPC3 T > C:CT NM_000256.3:
c.706A > G 		NP_000247.2:
p.S236G 		Chimpanzee
  CM082943 Chr11 118720796 - Primary
angle-closure
glaucoma? 		MFRP C > T:TT NM_031433.1:
c.770G > A 		NP_113621.1:
p.R257H 		Ancestral
  CM091988 Chr12 32913201 - Arrhythmogenic
right ventricular
cardiomyopathy 		PKP2 A > G:GG NM_004572.3:
c.1097T > C 		NP_004563.2:
p.L366P 		Ancestral
  CM044579 Chr13 51413355 - Wilson disease? ATP7B A > G:GG NM_000053.2:
c.3419T > C 		NP_000044.2:
p.V1140A 		Ancestral
  CM073339 Chr17 24310977 - Febrile seizures? SEZ6 T > C:CC NM_178860.4:
c.1636A > G 		NP_849191.3:
p.T546A 		Ancestral
  CM101950 Chr2 98363138 + Progressive cone
dystrophy? 		CNGA3 C > T:TC NM_001298.2:
c.284C > T 		NP_001289.1:
p.P95L 		Chimpanzee
  CM961335 Chr22 30817700 + Glucose/galactose
malabsorption 		SLC5A1 G > A:AA NM_000343.1:
c.1231G > A 		NP_000334.1:
p.A411T 		Ancestral
  CR080762 Chr1 15645754 + Pancreatitis,
chronic? 		CTRC T > C:CC rs75456156:T > C NA Ancestral
  CR080761 Chr1 15645757 + Pancreatitis,
chronic? 		CTRC A > G:GG rs760937:A > G NA Ancestral
  CR962526 Chr8 41774321 - Spherocytosis ANK1 A > G:GA rs77173848:A > G NA Chimpanzee
  1. aMutation type: modern human wild-type > modern human mutation: chimpanzee nucleotide, Denisovan nucleotide, Neanderthal nucleotide (both Neanderthal and Denisovan sequence covered). Y denotes pyrimidine.
  2. bModern human wild-type > modern human mutation: chimpanzee nucleotide, Denisovan nucleotide (only Denisovan sequence covered).
  3. *Previously reported by Zhang et al.[10]
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Human Genomics

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