Table 3 of
Scavello, Mol Vis 2005;
11:97-110.Table 3 of
Scavello, Mol Vis 2005;
11:97-110.
Table 3. Gene sequence variants
A list of observed sequence polymorphisms found in the 9 genes screened. In the first column, numbers prefixed with "rs" are public reference SNP numbers from the dbSNP database. Items not found in this database are listed as "Novel." The wild type sequence is derived from the scaffold sequence NT_010859 of chromosome 18p. Amino acid changes are for relevant splice variants. Sample numbers for affected individual appear in red. Sample numbers beginning with the letter "C" are controls.
Position Wild type Site of
on DNA nucleotide Observed nucleotide Amino acid
RefSNP ID Contig sequence base changes Sample number change change
------------- --------- ------------- -------------- --------------- ---------- ----------
CLUL1 (No polymorphisms observed)
EMILIN2
rs592120 2875118 A/G A/G 5-9, 5-6, 7-5, base 157 Asn>Asn
C-2 of exon 3
rs592120 2875118 A/G G 1-15 base 157 Asn>Asn
of exon 3
rs592120 2875118 A/G A 4-7, 6-4 base 157 Asn>Asn
of exon 3
rs601071 2903579 A/G A/G 7-5, 6-4 base 515 3' UTR
exon 9
rs601071 2903579 A/G G 5-9, 5-6, 1-15, base 515 3' UTR
4-7, C-2 of exon 9
rs1059281 2903896 C/G C/G 5-9, 1-15 base 832 3' UTR
of exon 9
rs1059281 2903896 C/G C 5-6, 7-5, 4-7, base 832 3' UTR
6-4, C-2 of exon 9
rs1059282 2903918 A/G A/G 5-9 base 854 3' UTR
exon 9
rs1059282 2903918 A A 1-15 base 854 3' UTR
of exon 9
rs1059282 2903918 G G 5-6, 7-5, 4-7, base 854 3' UTR
6-4, C-2 of exon 9
rs1790994 2903431 C/T T 5-9, 5-6, 1-15, base 367 3' UTR
4-7, C-2 of exon 9
rs1790994 2903431 C/T C/T 7-5, 6-6 base 367 3' UTR
of exon 9
rs3810066 2882201 C/T C 5-9, 5-6, 7-5, base 1643 Thr>Thr
1-15, 4-7, 6-4, of exon 4
C-2
rs3810067 2881478 A/G A 5-9, 5-6, 7-5, base 920 Asn>Asn
4-7, 6-4, C-2 of exon 4
rs3810067 2881478 A/G A/G 1-15 base 920 Asn>Ser
of exon 4
rs3826638 2881847 A/G G C008, C0014, base 1289 Arg>Arg
5-9, 5-6, C-2 of exon 4
rs3826638 2881847 A/G A/G 7-5, 1-15, 4-7, base 1289 Arg>Arg
6-4 of exon 4
LPIN2
Novel 2951033 T A C-6 Intron 1
rs652587 2951033 T/A 1-15, 3-6,
4-7, 5-6,
5-10, 6-4, C-3
Novel 2951049 C C/A 1-15, 5-6, C-1 Intron 1
Novel 2950970 TATTAA/TATTAA del/del C-5 Intron 1
Novel 2950970 TATTAA/del 1-15, 1-16,
3-6, 5-6, 5-10,
6-4, 5-9, C-1,
C-3
Novel 2950692 G G/A C-1 base 25 His>His
of exon 2
Novel 2924536 G C C-2 Intron 7
rs3765622 2924536 G/C 1-15, 3-6, 4-7,
6-4, 7-5, C-1,
C-3
Novel 2924436 C T/C 1-15 base 78 Lys>Lys
of exon 8
rs607549 2909606 A T 1-15, 5-6, C-1, 3' UTR 3' UTR
C-5
rs3840906 2909343 DIP T 1-15, 5-6, C-1, 3' UTR 3' UTR
C-5
rs8091401 2907798 G G/C 1-15 3' UTR 3' UTR
Novel 2907425 T T/G 5-6 3' UTR 3' UTR
rs1164 2907152 T T/C 5-6, C-5 3' UTR 3' UTR
MYOM1
rs1042731 3056944 A A/G 5-6, 1-15, C-3 base 611 3' UTR
of exon 36
rs10667835 3065503 TTT ins All Intron 32
rs2298540 3065554 A A/G 5-6, 1-15 Intron 32
Novel 3065712 G A/G 5-6, 1-15 Intron 32
rs1143657 3065746 C C/T C-2, 1-15 base 14 Ala>Ala
of exon 32
rs2298539 3065778 T G/T C-2, 1-15 Intron 31
rs9966837 3074007 T C/T 1-15, C-2 base 20 Met>Thr
of exon 29
Novel 3074052 G A/G 1-15 Intron 28
Novel 3074052 G A/A 5-6, C-2 Intron 28
rs5822736 3079522 C C/A 1-15 Intron 25
Novel 3079611 T C/T C-2 Intron 24
rs8098020 3083974 T C/T C-3 Intron 23
Novel 3084007 T A/T C-3, 5-6 Intron 23
rs9955413 3090049 A A/G 5-6 Intron 22
rs4798067 3090051 A G/G C-3, 5-6, 1-15, Intron 22
C-2
rs6506059 3090429 C C/T 5-6, 1-15, C-2 Intron 20
rs8096115 3102120 A G/G C-3, 5-6, 1-15 Intron 19
rs8084318 3102231 C G/G C-3, 5-6, 1-15 Intron 19
Novel 3102313 T G/T C-3 base 99 Trp>Gly
of exon 19
rs4129036 3106539 T C/T C-2 Intron 17
rs9954421 3116632 G A/G C-3, C-2 Intron 16
rs9954421 3116632 G A/A, A/G 5-6, 1-15
rs7505146 3124555 A A/G C-3 Intron 14
Novel 3124610 T C/T C-2 Intron 14
rs6506072 3139096 G A/G C-3 Intron 11
Novel 3139220 C C/T C-3 Intron 10
Novel 3139267 T C/T 1-15 Intron 10
rs8087321 3158741 G A/G C-2 Intron 6
rs11873066 3163816 G A/G C-3 Intron 6
rs10153415 3163873 C C/T C-3 Intron 6
rs10153407 3163964 C C/T C-3 base 36 His>His
of exon 6
3164018 G A/G C-3 Intron 5
rs11665082 3165911 G A/A, A/G C-2 Intron 4
Novel 3166017 G A/G C-3 Intron 4
rs11664-7 3166040 G C/C C-3 base 94 Trp>Cys
of exon 4
rs11664-7 3166040 G C/G 5-6, 1-15, C-2 base 94 Trp>Cys
of exon 4
rs8099021 3166063 G A/G C-3 base 71 Gly>Gly
of exon 4
rs10538262 3178857 T C/T C-2 base 230 Ser>Ser
of exon 2
rs2230166 3178873 C C/T C-2 base 214 Thr>Met
of exon 2
rs2230165 3178976 T C/C 1-15, C-3 base 111 Ser>Ser
of exon 2
rs2230165 3178976 T C/T 5-6 base 111 Ser>Ser
of exon 2
rs1962519 3179169 A A/A, A/G C-2 Intron 1
rs11664065 3179170 G G/G, T/T C-2 Intron 1
MRLC2
rs6146192 3252107 GTGCGCCTTCCG GTGCGCCTTCCG/ 5-1, 5-6, 7-5, 5' UTR 5' UTR
del 1-15, 6-4, C-2,
C-3
rs6146192 3252107 GTGCGCCTTCCG GTGCGCCTTCCG/ 4-7 5' UTR 5' UTR
(GTGCGCCTTCCG)
x3 ins
rs11650 3252193 T C/C 5-6, 7-5, 1-15, base 32 5' UTR
4-7, 6-4, C-3 of exon 1
rs11650 3252193 T C/T 5-1/C-2 base 32 5' UTR
of exon 1
rs4133582 3252379 G A/A All Intron 1 None
rs7407072 362874 T A/A All Intron 1 None
rs6506099 3262855 C T/T 5-6, 7-5, 1-15, Intron 1 None
6-4, C-2, C-3
rs6506099 3262855 C C/T 4-7 Intron 1 None
rs6506098 3262799 G C/C All Intron 1 None
rs1954838 3267077 C A/A 5-1, 5-6, 7-5, Intron 2 None
1-15, 6-4, C-2
rs10853294 3267237 G T/T 5-1, 5-6, 7-5, Intron 2 None
1-15, 4-7, C-2,
C-3
rs10853294 3267237 G G/T 6-4 Intron 2 None
rs6506100 3267466 T C/T 4-7 Intron 3 None
rs6506100 3267466 T C/C 5-1, 5-6, 7-5, Intron 3 None
1-15, 6-4, C-2,
C-3
rs6506101 3267467 G A/G 4-7 None
rs6506101 3267467 G A/A 5-1, 5-6, 7-5, Intron 3 None
1-15, 6-4, C-2,
C-3
rs1372996 3268475 A G/G 5-1, 5-6, 1-15, 3' UTR 3' UTR
6-4
rs7506285 3268480 T C/C 5-1, 5-6, 1-15, 3' UTR 3' UTR
6-4
MRCL3
rs716351 3243048 T C/T C-2 Intron 1 None
rs716351 3243048 T C/C 5-1, 5-6, 7-5, Intron 1 None
1-15, 6-4, C-3
rs1791105 3243543 G A/G 5-1, C-2, 4-7 Intron 2 None
rs2304926 3243628 G A/G C-2, 4-7 Intron 2 None
rs7811 3246112 A A/G 5-1 3' UTR 3' UTR
TGIF
Novel 3402167 C C/T, T/T 1-23, 1-15, base 96 5' UTR
1-16, 1-19, of exon 1
2-10, 5-6, C-2,
C-3
rs8092903 3402386 C C/T C-2 Intron 1
Novel 3402523 C C/T, T/T 5-6, 7-5, C-2 Intron 1
Novel 3408219 T C/T 7-5 Intron 2
rs238137 3437725 C C/T 1-16, 1-21, C-2 base 118 5' UTR
of exon 3
rs151472 3437871 T C/T 1-15, 1-19, Intron 3
4-7, 5-6, 7-5,
1-21, 1-23,
2-10, C-2
rs238132 3440455 C C/A 4-8, 6-4, C-2, base 284 5' UTR
C-3, C-4 of exon 5
rs238533 3441762 C C/T, T/T 4-7, 6-4, 4-8, base 172 5' UTR
C-4 of exon 6
Novel 3441896 G G/A, A/A 4-7, 6-4, 4-8 base 306
of exon 6
rs2238536 3442978 C C/T, T/T 4-7, 6-4, 4-8 base 374 UTR
of exon 7
Novel 3442216 C C/C del C-1 base 626 Early
of exon 6 truncation
Novel 3442223 T T/T del 3-6, C-1 base 633 Early
of exon 6 truncation
Novel 3443789 T G/T 1-16, 1-21, 2-6 base 18 5' UTR
of exon 8
rs2229337 3447539 A G/A, G/G 4-7, 6-4, C-2, base 177 None
C-4, C-5 of exon 10
Novel 3447598 C C/T 6-6, C-1 base 236 Pro>Leu
of exon 10
rs4468717 3447606 C C/T 3-6 base 44 Pro>Ser
of exon 10
rs2229333 3447607 C C/T, T/T 4-7, 6-4, 4-8 base 245 Pro>Leu
of exon 10
rs2229335 3447695 C C/T C-1, C-4 base 333 None
of exon 10
rs2229336 3447776 T T/G C-1, C-4 base 414 3' UTR
of exon 10
Novel 3448161 G G/A 5-9 base 799 3' UTR
of exon 10
Novel 3448260 G G/A 4-7, 5-6, 5-9, base 898 3' UTR
6-4, 7-5, C-2 of exon 10
DLGAP1
rs3786431 3804148 G C/G 2852 base 126 Thr>Thr
of exon 2
rs3745051 3719175 G A/A 5472 base 201 Val>Met
of exon 4
rs3745051 3719175 G A/G C008, 2141, base 201 Val>Met
2852 of exon 4
3571966 C C/T 5-6, 5472 base 281 Thr>Thr
of exon 5
Zinc Finger 161
rs620652 5282030 T C/C 5-1, 7-5, 1-15, base 174 Thr>Thr
6-4, C48 of exon 2
T C/T 5-6, 4-7 base 174 Thr>Thr
of exon 2
rs12522 5280282 T C/T 7-5, 5-1 base 1922 3' UTR
of exon 2
T C/C C48 base 1922 3' UTR
of exon 2
rs990072 5280198 A A/G 4-7, 7-5, 5-1 base 2006 3' UTR
of exon 2
A G/G C48, 6-4 base 2006 3' UTR
of exon 2
rs12343 5280174 C C/T 7-5, 5-1 base 2030 3' UTR
of exon 2
C T/T C48 base 2030 3' UTR
of exon 2
rs2789 5279887 G G/C C48, 5-1 base 2317 3' UTR
of exon 2
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