ABCMdb

PMID: 15192030

Stenirri S, Fermo I, Battistella S, Galbiati S, Soriani N, Paroni R, Manitto MP, Martina E, Brancato R, Allikmets R, Ferrari M, Cremonesi L
Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations.
Clin Chem. 2004 Aug;50(8):1336-43. Epub 2004 Jun 10., [PubMed]

Sentences

No. Mutations Sentence Comment

34 ABCA4 p.Gly1961Glu ABCA4 p.Asp2177Asn ABCA4 p.Ala1038Val ABCA4 p.Gly863Ala ABCA4 p.Leu541Pro ABCA4 p.Arg18Trp ABCA4 p.Arg2107His ABCA4 p.Leu1970Phe ABCA4 p.Cys1490Tyr ABCA4 p.Arg1300* ABCA4 p.Arg2139Trp ABCA4 p.Asn965Ser ABCA4 p.Val2050Leu ABCA4 p.Asn96Lys ABCA4 p.Arg653Cys ABCA4 p.Arg1098Cys ABCA4 p.Leu2027Phe ABCA4 p.Val767Asp ABCA4 p.Ala1598Asp ABCA4 p.Arg212His ABCA4 p.Asn1868Ile ABCA4 p.Thr1526Met ABCA4 p.Arg1108Cys ABCA4 p.Trp821Arg ABCA4 p.Pro1380Leu ABCA4 p.Cys2150Tyr ABCA4 p.Arg1300Gln ABCA4 p.Glu1087Lys ABCA4 p.Arg152Gln ABCA4 p.Arg943Gln ABCA4 p.His423Arg ABCA4 p.Arg1129Leu ABCA4 p.Ser2255Ile ABCA4 p.Trp700* ABCA4 p.Gly978Asp ABCA4 p.Thr897Ile ABCA4 p.Leu2241Val ABCA4 p.His1838Tyr ABCA4 p.Arg572Gln ABCA4 p.Pro1512Arg ABCA4 p.Arg2149Leu ABCA4 p.Glu1022Lys ABCA4 p.Tyr954Asp ABCA4 p.Pro143Leu ABCA4 p.Tyr639* ABCA4 p.Pro1948Ile ABCA4 p.Cys230Ser ABCA4 p.Gly1203Asp ABCA4 p.Gly1050Asp ABCA4 p.Cys641Ser ABCA4 p.Ser1099Pro Exon Genotypesa Exon Genotypesa 1b M1V (1A>G) (11) 24 3523-28Tb0e;C (12) R18W (52C>T) (11) 25 G1203D (3608G>A)b 3 250_251insCAAA (7) 27 R1300X (3898C>T) (12) N96K (288C>A) R1300Q (3899G>A) (11) 302 af9; 26 Gb0e;A (13) 28 P1380L (4139Cb0e;T) (14) 4 P143L (428C>T) (10) P1401P (4203Cb0e;A) (15) 5 R152Q (455G>A) (4) 4253 af9; 43Gb0e;A (12) 6 571-1Gb0e;T (4) 29 4253 af9; 13Gb0e;A (12) R212H (635G>A) (16) 4354-38Gb0e;A (4) C230S (688T>A) (12) 30a 4466 af9; 3Gb0e;A (4) 641delG (9) 30b C1490Y (4469G>A) (17) 10 1240-14Cb0e;T (13) P1512R (4535C>G) (4) H423R (1268b0e;G) (13) 31 T1526M (4577C>T) (14) 1357 af9; 11delG (16) 33/34 A1598D (4793C>A) (4) H423H (1269Cb0e;T) (13) 35 4947delC (14) 11 1387delTT (4) 5018 d19; 2T>C (7) R500R (1500Gb0e;A) (4) 39 H1838Y (5512C>T) (14) 12 L541P (1622T>C) (14) 40 N1868I (5603Ab0e;T) (13) R572Q (1715G>A) (17) L1894L (5682Gb0e;C) (15) 13 Y639X (1917C>G) (17) 5714 d19; 5G>A C641S (1922G>C) (4) 41 L1938L (5814Ab0e;G) (12) 14 R653C (1957C>T) (12) 42 5836-43Cb0e;A W700X (2099G>A) (4) 5836-11Gb0e;A (15) 3607 af9; 49Tb0e;C P1948I (5843Cb0e;T) (15) 15 V767D (2300T>A) (7) P1948P (5844Ab0e;G) (15) 16 W821R (2461T>A) (14) G1961E (5882G>A) (14) 17 2588-33Cb0e;Tb 43 L1970F (5908C>T) (11) G863A (2588G>C) (17) 44 6006-16Ab0e;G (16) 18 2654-36Cb0e;T (4) I2023I (6069Cb0e;T) (14) T897I (2690C>T) (7) L2027F (6079C>T) (14) 19 R943Q (2828Gb0e;A) (13) 45 V2050L (6148G>C) (14) Y954D (2860T>G) (4) 46 R2107H (6320G>A) (18) N965S (2894A>G) (14) 6386 d19; 2G>C (10) 20 G978D (2933G>A) (4) 47 R2139W (6415C>T) (14) L988L (2964Cb0e;T) (4) R2149L (6446G>T) (4) 21 E1022K (3064G>A) (4) C2150Y (6449G>A) (19) A1038V (3113C>T) (14) 48 D2177N (6529G>A) (17) G1050D (3149G>A) (4) L2241V (6721C>G) (12) 3211_3212insGT (14) 6729 af9; 21Cb0e;T (15) 22 E1087K (3259G>A) (14) 49 6730-3Tb0e;C (15) R1098C (3292C>T) (12) S2255I (6764Gb0e;T) (13) S1099P (3295T>C) (4) 6816 af9; 28Gb0e;C (4) R1108C (3322C>T) (14) R1129L (3386G>T) (17) a Bold indicates disease-causing mutations. Login to comment 35 ABCA4 p.Gly1961Glu ABCA4 p.Asp2177Asn ABCA4 p.Ala1038Val ABCA4 p.Gly863Ala ABCA4 p.Leu541Pro ABCA4 p.Arg18Trp ABCA4 p.Arg2107His ABCA4 p.Leu1970Phe ABCA4 p.Cys1490Tyr ABCA4 p.Arg1300* ABCA4 p.Arg2139Trp ABCA4 p.Asn965Ser ABCA4 p.Val2050Leu ABCA4 p.Asn96Lys ABCA4 p.Arg653Cys ABCA4 p.Arg1098Cys ABCA4 p.Leu2027Phe ABCA4 p.Val767Asp ABCA4 p.Ala1598Asp ABCA4 p.Arg212His ABCA4 p.Asn1868Ile ABCA4 p.Thr1526Met ABCA4 p.Arg1108Cys ABCA4 p.Trp821Arg ABCA4 p.Pro1380Leu ABCA4 p.Cys2150Tyr ABCA4 p.Arg1300Gln ABCA4 p.Glu1087Lys ABCA4 p.Arg152Gln ABCA4 p.Arg943Gln ABCA4 p.His423Arg ABCA4 p.Arg1129Leu ABCA4 p.Ser2255Ile ABCA4 p.Trp700* ABCA4 p.Gly978Asp ABCA4 p.Thr897Ile ABCA4 p.Leu2241Val ABCA4 p.His1838Tyr ABCA4 p.Arg572Gln ABCA4 p.Pro1512Arg ABCA4 p.Arg2149Leu ABCA4 p.Glu1022Lys ABCA4 p.Tyr954Asp ABCA4 p.Pro143Leu ABCA4 p.Tyr639* ABCA4 p.Pro1948Ile ABCA4 p.Cys230Ser ABCA4 p.Gly1203Asp ABCA4 p.Gly1050Asp ABCA4 p.Cys641Ser ABCA4 p.Ser1099Pro Exon Genotypesa Exon Genotypesa 1b M1V (1A>G) (11) 24 3523-28TϾC (12) R18W (52C>T) (11) 25 G1203D (3608G>A)b 3 250_251insCAAA (7) 27 R1300X (3898C>T) (12) N96K (288C>A) R1300Q (3899G>A) (11) 302 ϩ 26 GϾA (13) 28 P1380L (4139CϾT) (14) 4 P143L (428C>T) (10) P1401P (4203CϾA) (15) 5 R152Q (455G>A) (4) 4253 ϩ 43GϾA (12) 6 571-1GϾT (4) 29 4253 ϩ 13GϾA (12) R212H (635G>A) (16) 4354-38GϾA (4) C230S (688T>A) (12) 30a 4466 ϩ 3GϾA (4) 641delG (9) 30b C1490Y (4469G>A) (17) 10 1240-14CϾT (13) P1512R (4535C>G) (4) H423R (1268ϾG) (13) 31 T1526M (4577C>T) (14) 1357 ϩ 11delG (16) 33/34 A1598D (4793C>A) (4) H423H (1269CϾT) (13) 35 4947delC (14) 11 1387delTT (4) 5018 ؉ 2T>C (7) R500R (1500GϾA) (4) 39 H1838Y (5512C>T) (14) 12 L541P (1622T>C) (14) 40 N1868I (5603AϾT) (13) R572Q (1715G>A) (17) L1894L (5682GϾC) (15) 13 Y639X (1917C>G) (17) 5714 ؉ 5G>A C641S (1922G>C) (4) 41 L1938L (5814AϾG) (12) 14 R653C (1957C>T) (12) 42 5836-43CϾA W700X (2099G>A) (4) 5836-11GϾA (15) 3607 ϩ 49TϾC P1948I (5843CϾT) (15) 15 V767D (2300T>A) (7) P1948P (5844AϾG) (15) 16 W821R (2461T>A) (14) G1961E (5882G>A) (14) 17 2588-33CϾTb 43 L1970F (5908C>T) (11) G863A (2588G>C) (17) 44 6006-16AϾG (16) 18 2654-36CϾT (4) I2023I (6069CϾT) (14) T897I (2690C>T) (7) L2027F (6079C>T) (14) 19 R943Q (2828GϾA) (13) 45 V2050L (6148G>C) (14) Y954D (2860T>G) (4) 46 R2107H (6320G>A) (18) N965S (2894A>G) (14) 6386 ؉ 2G>C (10) 20 G978D (2933G>A) (4) 47 R2139W (6415C>T) (14) L988L (2964CϾT) (4) R2149L (6446G>T) (4) 21 E1022K (3064G>A) (4) C2150Y (6449G>A) (19) A1038V (3113C>T) (14) 48 D2177N (6529G>A) (17) G1050D (3149G>A) (4) L2241V (6721C>G) (12) 3211_3212insGT (14) 6729 ϩ 21CϾT (15) 22 E1087K (3259G>A) (14) 49 6730-3TϾC (15) R1098C (3292C>T) (12) S2255I (6764GϾT) (13) S1099P (3295T>C) (4) 6816 ϩ 28GϾC (4) R1108C (3322C>T) (14) R1129L (3386G>T) (17) a Bold indicates disease-causing mutations. 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