4.1 Complexidade do algoritmo
4.2.3 Análise mutacional
A sequência de nucleotídeos do éxon 14 é identificada por meio do algoritmo como uma palavra-código do código CHC (n, k, d) = (127, 120, 3), rotulamento B, por meio da utilização
do polinômio primitivo p (x) = x7+ x3+ 1 e do polinômio gerador g (x) = x7+ 2x5+ x3+ 3.
Consideramos a seguir a sequência original do BRCA1 como postada no banco NCBI:
Ont: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTG OLb: 103202200122101030000320323002011120200311030021103003311222123123 GLb: 103202200122101030000320323002011120200311030021103003311222123123 Gnt: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTG Ont: ACAAGTTTGAGGTGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG OLb: 0100322230332321231030203221201103200000200030011033032330003 GLb: 0100322230331321231030203221201103200000200030011033032330003 Gnt: ACAAGTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
A sequência do BRCA1 (Exon14) identificada pelo código é uma palavra-código (CW) que difere na posição 1479 no que diz respeito ao éxon 14 com a troca de uma timina (T) por uma citosina (C), ver Tabela 45. Em seguida, foi usada esta palavra-código como referência, e foram analisadas cada uma das mutações classificadas como missense e nonsense, descritas em (National Human Genome Research Institute, ), ver Tabela 45.
A análise mutacional do éxon 14:
aa: ...V.· · · ..S..Q.· · · .Y..P· · · Q..N..P..E..G· · · ..V..· · · S..S..T..S..K..· · · V..E..
Exon14: CAGTA· · · TTCACAG· · · TACCC· · · AGAATCCAGAAGG· · · GGTGT· · · GTTCTACCAGTAAAA· · · TGGAAAG
CW: CAGTA· · · TTCACAG· · · TACCC· · · AGAATCCAGAAGG· · · GGCGT· · · GTTCTACCAGTAAAA· · · TGGAAAG
4489: CAGTA· · · TTGACAG· · · TACCC· · · AGAATCCAGAAGG· · · GGCGT· · · GTTCTACCAGTAAAA· · · TGGAAAG
4491: CAGTA· · · TTCATAG· · · TACCC· · · AGAATCCAGAAGG· · · GGCGT· · · GTTCTACCAGTAAAA· · · TGGAAAG
4508: CAGTA· · · TTCACAG· · · TAACC· · · AGAATCCAGAAGG· · · GGCGT· · · GTTCTACCAGTAAAA· · · TGGAAAG
4521: CAGTA· · · TTCACAG· · · TACCC· · · AGCATCCAGAAGG· · · GGCGT· · · GTTCTACCAGTAAAA· · · TGGAAAG
4524: CAGTA· · · TTCACAG· · · TACCC· · · AGAATTCAGAAGG· · · GGCGT· · · GTTCTACCAGTAAAA· · · TGGAAAG
4529: CAGTA· · · TTCACAG· · · TACCC· · · AGAATCCAGATGG· · · GGCGT· · · GTTCTACCAGTAAAA· · · TGGAAAG
4569: CAGTA· · · TTCACAG· · · TACCC· · · AGAATCCAGAAGG· · · GGCGT· · · GTACTACCAGTAAAA· · · TGGAAAG
4573: CAGTA· · · TTCACAG· · · TACCC· · · AGAATCCAGAAGG· · · GGCGT· · · GTTCTATCAGTAAAA· · · TGGAAAG
4599: CAGTA· · · TTCACAG· · · TACCC· · · AGAATCCAGAAGG· · · GGCGT· · · GTTCTACCAGTAAAA· · · TGTAAAG
4599: CAGTA· · · TTCACAG· · · TACCC· · · AGAATCCAGAAGG· · · GGCGT· · · GTTCTACCAGTAAAA· · · TGAAAAG
4603: CAGTA· · · TTCACAG· · · TACCC· · · AGAATCCAGAAGG· · · GGCGT· · · GTTCTACCAGTAAAA· · · TGGAAAA 4603: CAGTA· · · TTCACAG· · · TACCC· · · AGAATCCAGAAGG· · · GGCGT· · · GTTCTACCAGTAAAA· · · TGGAAAT
Tabela 45 – Éxon 14 do gene BRCA1 – posição no gene: 4477:4603 e as respectivas mutações (missense e nonsense).
O nucleotídeo modificado (G-C) está na posição 4489 (indicado em azul). Este procedi- mento aplica-se às sequências restantes. Finalmente, cada uma destas sequências foi analisada com a utilização do correspondente CHC. Os resultados são apresentados a seguir iniciando pelas análises das mutações nonsense.
Acompanhe a análise mutacional nonsense 4489:
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
aa: ...V..L..T..*..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
4489: CAGTATTAACTTGACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
4489 CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA
..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
Tabela 46 – Análise mutacional (nonsense) 4489 do éxon 14 por meio do código (n, k, d) =
(127, 120, 3), rotulamento B - p (x) = x7+ x3+ 1 e g (x) = x7 + 2x5+ x3+ 3.
Acompanhe a análise mutacional nonsense 4491:
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
aa: ...V..L..T..S..*..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
4491 (C-T): CAGTATTAACTTCATAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
4491 CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA
..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
Tabela 47 – Análise mutacional (nonsense) 4491 do éxon 14 por meio do código (n, k, d) =
(127, 120, 3), rotulamento B - p (x) = x7+ x3+ 1 e g (x) = x7+ 2x5 + x3+ 3.
Acompanhe a análise mutacional nonsense 4508:
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
aa: ...V..L..T..S..Q..K..S..S..E..*..P..I..S..Q..N..P..E..G..L..S..A..D..K
4508(C-A): CAGTATTAACTTCACAGAAAAGTAGTGAATAACCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
4508 CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA
..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
Tabela 48 – Análise mutacional (nonsense) 4508 do éxon 14 por meio do código (n, k, d) =
(127, 120, 3), rotulamento B - p (x) = x7+ x3+ 1 e g (x) = x7+ 2x5+ x3+ 3.
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
4599(G-A): CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..*
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGTAAAG
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
4599 CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA
..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
Tabela 49 – Análise mutacional (nonsense) 4599 do éxon 14 por meio do código (n, k, d) =
(127, 120, 3), rotulamento B - p (x) = x7+ x3+ 1 e g (x) = x7+ 2x5+ x3+ 3.
Segue abaixo as análises das mutações missense. Acompanhe a análise mutacional missense 4521:
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..H..P..E..G..L..S..A..D..K
4521(A-C): CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGCATCCAGAAGGCCTTTCTGCTGACAA
..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
4521 CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA
..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
Tabela 50 – Análise mutacional (missense) 4521 do éxon 14 por meio do código (n, k, d) =
(127, 120, 3), rotulamento B - p (x) = x7+ x3+ 1 e g (x) = x7+ 2x5+ x3+ 3.
Acompanhe a análise mutacional missense 4524:
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..S..E..G..L..S..A..D..K
4524(C-G): CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATTCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
4524 CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA
..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
Tabela 51 – Análise mutacional (missense) 4524 do éxon 14 por meio do código (n, k, d) =
(127, 120, 3), rotulamento B - p (x) = x7+ x3+ 1 e g (x) = x7+ 2x5+ x3+ 3.
Acompanhe a análise mutacional missense 4529:
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
4529(A-T): CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGATGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
Tabela 52 – Análise mutacional (missense) 4529 do éxon 14 por meio do código (n, k, d) =
(127, 120, 3), rotulamento B - p (x) = x7+ x3+ 1 e g (x) = x7+ 2x5+ x3+ 3.
Acompanhe a análise mutacional missense 4569:
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
4569(T-A): CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..T..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTACTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
4569 CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA
..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
Tabela 53 – Análise mutacional (misense) 4569 do éxon 14 por meio do código (n, k, d) =
(127, 120, 3), rotulamento B - p (x) = x7+ x3+ 1 e g (x) = x7+ 2x5+ x3+ 3.
Acompanhe a análise mutacional missense 4573:
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
4573(C-T): CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..I..S..K..N..K..E..P..G..V..E
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
4573 CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA
..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
Tabela 54 – Análise mutacional (missense) 4573 do éxon 14 por meio do código (n, k, d) =
(127, 120, 3), rotulamento B - p (x) = x7+ x3+ 1 e g (x) = x7+ 2x5+ x3+ 3.
Acompanhe a análise mutacional missense 4579:
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
4579(A-G): CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..T..S..R..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAGAAATAAAGAACCAGGAGTGGAAAG
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
4579 CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA
..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
Tabela 55 – Análise mutacional (missense) 4579 do éxon 14 por meio do código (n, k, d) =
(127, 120, 3), rotulamento B - p (x) = x7+ x3+ 1 e g (x) = x7+ 2x5+ x3+ 3.
Acompanhe a análise mutacional missense 4599:
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..K
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGAAAAG
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
4599 CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA
..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
Tabela 56 – Análise mutacional (missense) 4599 do éxon 14 por meio do código (n, k, d) =
(127, 120, 3), rotulamento B - p (x) = x7+ x3+ 1 e g (x) = x7+ 2x5+ x3+ 3.
Acompanhe a análise mutacional missense 4603:
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
4603(G-A): CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGAAAAA
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
4603 CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA
..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
Tabela 57 – Análise mutacional (missense) 4603 do éxon 14 por meio do código (n, k, d) =
(127, 120, 3), rotulamento B - p (x) = x7+ x3+ 1 e g (x) = x7+ 2x5+ x3+ 3.
Acompanhe a análise mutacional missense 4603:
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
4603(G-T): CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA ..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGAAAAT
aa: ...V..L..T..S..Q..K..S..S..E..Y..P..I..S..Q..N..P..E..G..L..S..A..D..K
4603 CW: CAGTATTAACTTCACAGAAAAGTAGTGAATACCCTATAAGCCAGAATCCAGAAGGCCTTTCTGCTGACAA
..F..E..V..S..A..D..S..S..T..S..K..N..K..E..P..G..V..E
GTTTGAGGCGTCTGCAGATAGTTCTACCAGTAAAAATAAAGAACCAGGAGTGGAAAG
Tabela 58 – Análise mutacional (missense) 4603 do éxon 14 por meio do código (n, k, d) =
(127, 120, 3), rotulamento B - p (x) = x7+ x3+ 1 e g (x) = x7+ 2x5+ x3+ 3.