Figure 2 of
Hutcheson, Mol Vis 2005;
11:501-508.Figure 2 of
Hutcheson, Mol Vis 2005;
11:501-508.
Figure 2. The genetic structure of the Norrie disease gene showing its DNA and amino acid sequence
Known Norrie disease causing gene mutations and the resulting protein alteration are in red. The positive control samples (sample identification numbers 367, 481, 484, and 758) used in this study with known mutations are in parentheses. Positive control 367 had a deletion of "A" at bp position 741. Positive control 481 had "AA" instead "GC" at bp position 792. Positive control 484 had a "C" instead "G" at bp position 698. Positive control 758 had an insertion of "CTC" at bp position 676. The amino acid sequence is purple.
CCTCTCTCTCTCTCCCTCTCTCTCTCCCTCTCTCTCTCTCCCTGTGTCGCTTAAACAACAGTCCTAACTTTTGTGTGTTGCA
AATATAAAAGGCAAGCCATGTGACAGAGGGACAGAAGAACAAAAGCATTTGGAAGTAACAGGACCTCTTTCTAGCTCTCAGA
AAAGTCTGAGAAGAAAGGAGCCCTGCGTTCCCCTAAGCTGTGCAGCAGATACTGTGATGATGGATTGCAAGTGCAAAGAGTA
AGACAAAACTCCAGCACATAAAGGACAATGACAACCAGAAAGCTTCAGCCCGATCCTGCCCTTTCCTTGAACGGGACTGGAT
CCTAGGAGGTGAAGCCATTTCCAATTTTTTGTCCTCTGCCTCCCTCTGCTGTTCTTCTAGAGAAGTTTTTCCTTACAACA
ATGAGAAAACAT
METArgLysHis
GTACTAGCTGCATCCTTTTCTATGCTCTCCCTGCTGGTGATAATGGGAGATACAGACAGT
ValLeuAlaAlaSerPheSerMETLeuSerLeuLeuValIleMETGlyAspThrAspSer
533
530|
| |
AAGCGC
AAAACGGACAGCTCATTCATAATGGACTCGGACCCTCGACGCTGCATGAGGCACCACTAT
LysThrAspSerSerPheIleMETAspSerAspProArgArgCysMETArgHisHisTyr
LysArg
R41K
H42R
582
|
AAT
GTGGATTCTATCAGTCACCCATTGTACAAGTGTAGCTCAAAGATGGTGCTCCTGGCCAGG
ValAspSerIleSerHisProLeuTyrLysCysSerSerLysMETValLeuLeuAlaArg
Asn
K58N
634(#2619)
|
TAG
TGCGAGGGGCACTGCAGCCAGGCGTCACGCTCCGAGCCTTTGGTGTCGTTCAGCACTGTC
CysGluGlyHisCysSerGlnAlaSerArgSerGluProLeuValSerPheSerThrVal
Ter
E76Ter
676(#758) 696 698(#484)
| | |
TTCCTCCGT TGGCCG
CTCAAGCAACCCTTCCGTTCCTCCTGTCACTGCTGCCGGCCCCAGACTTCCAAGCTGAAG
LeuLysGlnProPheArgSerSerCysHisCysCysArgProGlnThrSerLysLeuLys
PheLeuArg TrpPro
90InsCTC C96W
R97P
741(#367) 769
721 731 736 | 767 |
| | | | | |
ACA CCG GGCTC- TGCTGG
GCACTGCGGCTGCGATGCTCAGGGGGCATGCGACTCACTGCCACCTACCGGTACATCCTC
AlaLeuArgLeuArgCysSerGlyGlyMETArgLeuThrAlaThrTyrArgTyrIleLeu
Thr Pro Gly CysTrp
A105T L108P Y120C
C110G R121W
111DelA
791 792(#481)
||
TAA
TCCTGTCACTGCGAGGAATGCAATTCCTGAGGCCCGCTGCTGTGTGTGGCTTCTGGATGG
SerCysHisCysGluGluCysAsnSerSTP
Ter
C128Ter
GACAACTGTAGAGGCAGTTCGACCAGCCAGGGAAAGACTGGCAAGAAAAGAGTTAAGGCAAAAAAGGATGCAACAATTCTCC
CGGGACTCTGCATATTCTAGTAATAAAGACTCTACATGCTTGTTGACAGAGAGAGATACTCTGGGAACTTCTTTGCAGTTCC
CATCTCCTTTCTCTGGTACAATTTCTTTTGGTTCATTTTCAGATTCAGGCATTTTCCCCCTTGGCTCTCAATGCTGTTTGGG
TTTCCAACAATTCAGCATTAGTGGGAAAAAGTGGGCCCTCATACACAAGCGTGTCAGGCTGTCAGTGTTTGGTGCACGCTGG
GGAAGAATTTACTTTGGAAAGTAGAAAAGCCCAGCTTTTCCTGGGACATCTTCTGTTATTGTTGATGTTTTTTTTTACCTTG
TCATTTTGGTCTAAGGTTGCCATTGCTGCTAAAGGTTACCGATTTCAAAGTCCAGATACCAAGCATGTGGATATGTTTAGCT
ACGTTTACTCACAGCCAGCGAACTGACATTAAAATAACTAACAAACAGATTCTTTTATGTGATGCTGGAACTCTTGACAGCT
ATAATTATTATTCAGAAATGACTTTTTGAAAGTAAAAGCAGCATAAAGAATTTGTCACAGGAAGGCTGTCTCAGATAAATTA
TGGTAAAATTTTGTAAGGGAGCAGACTTTTAAAGACTTGCACAAATACGGATCCTGCACTGACTCTGGAAAAGGCATATATG
TACTAGTGGCATGGAGAATGCACCATACTCATGCATGCAAATTAGACAACCAAGTATGAATCTATTTGTGGGTGTGCTATAG
CTTTAGCGTGTCACGGGCATCATTCTCTAATATCCACTTGTCCATGTGAAACATGTTGCCAAAATGGTGGCCTGGCTTGTCT
TCTGAACGTTTGGTTCAAATGTGTTTTGGTCCTGGAGGCTCAAATTTTGAGTTATTCCCACGTTTTGAAATAAAAAGAGTAT
ATTCAAAAAAAAAAAAAAAAAA
|