Electronic supplementary material

Table 1. ATP7A mutation database.

EXON

NT

5'UTR

~403del98

CODON

TYPE
(nucleotide)

DIS

SEQUENCE

REGION OF PROTEINa REFb

(protein)

deletion

OHS

5'UTR

15

644C>T

Q167X

substitution

nonsense MNK

CAA>TAA

CuBD 2

674insAAAG

V177-fs

insertion

frameshift MNK

insAAAG

CuBD 2

28

798del5

H218-fs

deletion

frameshift MNK

delATCTT

CuBD 2-3

803del5

L219-fs

deletion

frameshift MNK

delATCTC

CuBD 2-3

1035delG

S297-fs

deletion

frameshift MNK

GAA^AGTACT

CuBD 3

27

1173insA

Y343X

insertion

nonsense MNK

CTA^TAT>CTATAAT

CuBD 3-4

19

5
5

1278delA

T379-fs

deletion

frameshift MNK

CAA^GAAACT

CuBD 4

28

1370C>T

R409X

substitution

nonsense MNK

CGA-TGA

CuBD 4

28

1377delC

L412-fs

deletion

frameshift MNK

TCC^CTT

CuBD 4

28

1605C>A

S487X

substitution

nonsense MNK

TCA>TAA

CuBD 5

E529X

substitution

nonsense MNK

GAA>TAA

CuBD 5-6

1730G>T

IVS6

IVS6+1g>a

IVS6

IVS6+5g>a

IVS6

IVS6+2del4

1879C>A

MNK

GTTgtaag>GTTataag

splice-donor

MNK

GTTgtaag>GTTgtaaa

splice-donor

OHS

GTTgtaagtaag

splice-donor

C578X

substitution

7
18
18
7,18

nonsense MNK

TGC>TGA

CuBD 6
CuBD 6

CuBD 6

28

28

1893delAG

I582-fs

deletion

frameshift MNK

ATA^GAG^TCT

1913delAG

G590-fs

deletion

frameshift MNK

CAC^AGAGGG

1925insT

Y594-fs

insertion

frameshift MNK

CTA^TAC>CTA^TTAC

CuBD 6 - TM 1

28

1962delT

K606-fs

deletion

frameshift MNK

CAT^ATTAAA

CuBD 6 - TM 1

28

IVS7

IVS7-1g>c

splice-acceptor

IVS7

IVS7+41C>T

splice-acceptor

2030insA

E628-fs

insertion

frameshift MNK

GAA^GCT>GAA^GACT

CuBD 6 - TM 1

2030G>C

A629P

substitution

missense

GCT>CCT

CuBD 6 - TM 1

28

2055C>G

S637X

substitution

nonsense MNK

TCA>TGA

CuBD 6 - TM 1

28

TCA>TTA

CuBD 6 - TM 1

23

MNK

MNK
OHS

agAGC>acAGC

28

same as C2055T

23

2055C>T

S637L

substitution

missense

2078C>T

R645X

substitution

nonsense MNK

CGA>TGA

CuBD 6 - TM 1

2081G>T

E646X

substitution

nonsense MNK

GAA>TAA

CuBD 6 - TM 1

IVS8

IVS8+1g>c

splice-donor

MNK

ACAgta>ACActa

IVS8

IVS8+2t>c

splice-donor

MNK

ACAgta>ACAgca

IVS8

IVS8+2del2

splice-donor

MNK

ACAgtaagt

28

28
5

IVS8

IVS8+5g>a

splice-donor

MNK

ACAgtaag>ACAgtaaa

28

IVS8

IVS8+5g>c

splice-donor

MNK

ACAgtaag>ACAgtaac

28

IVS8

IVS8+6t>g

splice-donor

MNK

ACAgtaagt>ACAgtaag

IVS8

IVS8dup5

splice-acceptor

MNK

ataagAT>ataagataagAT

2201delA

N686-fs

deletion

28
5,28

frameshift MNK

AAT^CAAAAC

TM 1 - TM 2

28

TM 1 - TM 2

28

2213G>T

E690X

substitution

nonsense MNK

GAA>TAA

2262T>G

L706R

substitution

missense

MNK

CTT>CGT

TM 2

2298T>A

L718X

substitution

nonsense MNK

TTA>TAA

TM 2

20

2317G>T

Q724H

substitution

missense

CAG>CAT

TM 2

IVS9

IVS9+5g>c

splice-donor

MNK
MNK

10
19

10

2324G>A

G727R

substitution

missense

GGA>AGA

TM 2

10

2348insT

A735-fs

insertion

frameshift MNK

CAG^GCT>CAGGACT

TM 2 - TM 3

28

10

2429delTT

L762-fs

deletion

frameshift MNK

TAC^TCTTTG

TM 3

28

MNK

10

2459del4

R771-fs

deletion

frameshift MNK

GAGAGAGCC

TM 3 - TM 4

10

2482del14

T779-fs

deletion

frameshift MNK

CCT^ATTACTTTCTTTGACACACCCCCT

TM 4

10

2528C>T

R795X

substitution

nonsense MNK

CGA>TGA

TM 4

IVS10

IVS10+3a>t

splice-donor

OHS

gtaaagt>gttaagt

28

7
28
28
22

11

2591C>T

Q816X

substitution

nonsense MNK

CAA>TAA

TD

17

11

2642A>G

S833G

substitution

missense

AGT>GGT

TD

12

2653delA

Q836-fs

deletion

frameshift MNK

GAA^CAAGTG

TD

27

12

2763T>G

L873R

substitution

missense

MNK

CTC>CGC

TD

IVS12

IVS12-2a>g

MNK

agGGG>ggGGG

13

2831C>T

splice-acceptor
Q896X
Q924X

substitution
substitution

OHS

19
28

nonsense MNK

CAG>TAG

TD

28

nonsense MNK

CAA>TAA

TD

28

13

2915C>T

14

3012G>A

W956X

substitution

nonsense MNK

TGG>TAG

TM 5

28

14

3032delA

N963-fs

deletion

frameshift MNK

TTT^CTGAATTTT

TM 5

28

IVS14

IVS14-4a>g

15

3083delC

R980-fs

deletion

frameshift MNK

ATC^TCCCGAACA

TM 5 - TM 6

15

3083C>T

R980X

substitution

nonsense MNK

TCC^CGA

TM 5 - TM 6

15

3101C>T

R986X

substitution

nonsense MNK

CGA>TGA

TM 6

21

15

3162T>C

L1006P

substitution

missense

CTG>CCG

TM 6

28

splice-acceptor

OHS

MNK

6
28
7

15

3201G>A

G1019D

substitution

missense

15

3219insAT

I1024-fs

insertion

frameshift MNK

MNK

GGT>GAT

TM 6

28

ATACTA>ATACTATA

TM 6

16

3386G>T

E1081X

substitution

nonsense MNK

GAA>TAA

PD - SEHPL

28

16

3392insA

N1083-fs

insertion

frameshift MNK

AGTAAC>AGTAAAC

PD - SEHPL

28

16

3438delAG

Q1098-fs deletion

frameshift MNK

AAACAGGTAC

SEHPL - ATP

17

3498G>A

G1118D

substitution

missense

GGT>GAT

ATP

17

3636delT

I1164-fs

deletion

frameshift MNK

TCC^ATGATTATT

ATP

28

IVS17

IVS17+5g>a

19

3825delC

A1227-fs

deletion

frameshift MNK

ATAGCC

ATP

17

19

3849delA

E1235-fs

deletion

frameshift MNK

AAG^CCTGAAGCA

ATP

28

19

3908G>A

G1255R

substitution

missense

GGA>AGA

ATP

20

4026delA

K1294-fs

deletion

frameshift MNK

GAG^GGGAAA

ATP

28

20

4049G>A

G1302R

substitution

missense

GGA>AGA

ATP

20

4150delG

R1335-fs

deletion

frameshift MNK

ATA^AGGAAT

ATP

IVS20

IVS20-2a>g

21

4159delTCT

L1339del deletion

deletion

21

4175insTGCCA

S1344-fs

insertion

frameshift MNK

splice-donor

MNK
mild

splice-acceptor

MNK

MNK

6,16

MNK

agAA>ggAA

MNK

GATCTTCTGGAT or GATCTTCTGGAT

ATP

GCA^ATGCCAGT

ATP

28

21

4177T>A

S1344R

substitution

missense

MNK

AGT>AGA

ATP

21

4178A>T

I1345F

substitution

missense

MNK

ATT>TTT

ATP

A1362V

substitution

missense

MNK

GCT>GTT

TM 7

21

4230C>T

IVS21

IVS21+3a>t

22

4277insA

M1378-fs insertion

frameshift MNK

TTT^AATG

TM 7

22

4286del10

G1381-fs deletion

frameshift MNK

CCC^ATTGGTTTGGTTTTGCA

TM 7

28

22

4346delGT

V1400-fs

frameshift MNK

28

splice-donor

22/IVS22 4353del15+IVS22del19 L1402-fs

IVS22

IVS22+2t>c

23

4497delG

deletion
splice-donor
splice-donor

K1449-fs

deletion

MNK

GTT^TCTGTAGTA

TM 8

MNK

CTT^TCTTCTCTCTTAAACTgtaagtatgatagcttttg

C-terminus

MNK

ACTgt>ACTgc

frameshift OHS

AAA^CTGGGT

CuBD: copper-binding domain; TM: transmembrane helix; TD: transduction domain; PD: phosphorylation domain;
SEHPL: conserved SEHPL motif; ATP: ATP-binding domain
b

Full references listed below

1
9

7
28

C-terminus

References
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