Table 2 Sequence alignment of the BRCA1 and BRCA2 proteins for the two missense VUS identified

BRCA1 c.5348T>C (p.Met1783Thr)

Human

1783

T

N

M

P

T

D

Q

L

E

W

M

V

Q

L

C

G

A

S

V

V

K

E

L

mutated

Not conserved

1783

T

N

M

P

T

D

Q

L

E

W

T

V

Q

L

C

G

A

S

V

V

K

E

P. troglodytes

All identical

ENSPTRG00000009236

1783

T

N

M

P

T

D

Q

L

E

W

M

V

Q

L

C

G

A

S

V

V

K

E

M. mulatta

All identical

ENSMMUG00000001329

1783

T

N

M

P

T

D

Q

L

E

W

M

V

Q

L

C

G

A

S

V

V

K

E

F. catus

No homologue

M. musculus

All identical

ENSMUSG00000017146

1726

T

N

M

P

K

D

E

L

E

R

M

L

Q

L

C

G

A

S

V

V

K

E

G. gallus

All conserved

ENSGALG00000002781

1674

T

D

M

T

T

G

H

L

E

W

I

V

E

L

C

G

A

S

V

V

K

Q

T. rubripes

All identical

ENSTRUG00000009091

1207

T

D

M

T

T

A

E

M

E

L

M

V

E

L

C

G

A

T

V

V

K

D

D. rerio

no homologue

D. melanogaster

no homologue

C. elegans

No homologue

X. tropicalis

All identical

ENSXETG00000024564

1524

T

D

M

T

L

D

D

L

E

W

M

V

S

E

C

G

S

T

V

V

R

D

BRCA2 c.7504C>T (p.Arg2502Cys)

Human

2502

D

M

R

I

K

K

K

Q

R

Q

R

V

F

P

Q

P

G

S

L

Y

L

A

mutated

Not conserved

2502

D

M

R

I

K

K

K

Q

R

Q

C

V

F

P

Q

P

G

S

L

Y

L

A

P. troglodytes

All identical

ENSPTRG00000005766

2502

D

M

R

I

K

K

K

Q

R

Q

R

V

F

P

Q

P

G

S

L

Y

L

A

M. mulatta

no homologue

F. catus

No homologue

M. musculus

Not conserved

ENSMUSG00000041147

2423

D

M

R

I

K

N

K

E

R

R

H

L

R

L

Q

P

G

S

L

Y

L

T

G. gallus

Not conserved

ENSGALG00000017073

2457

E

M

R

I

K

K

K

Y

R

Q

N

I

S

P

T. rubripes

No homologue

D. rerio

not conserved

ENSDARG00000079015

2046

D

M

R

L

R

K

K

K

R

Q

T

I

R

P

V

P

G

S

L

Y

L

A

D. melanogaster

No homologue

C. elegans

No homologue

X. tropicalis

All conserved

ENSXETG00000017011

2293

E

M

R

I

R

K

K

L

R

Q

K

I

K

P

H

P

G

S

L

Y

R

L