(used for variant description)
(last modified October 7, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_003738.4 in the PTCH2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013369.1, covering PTCH2 transcript NM_003738.4.
(upstream sequence)
. g.5012
atccccgccagc c.-1
. . . . . . g.5072
ATGACTCGATCGCCGCCCCTCAGAGAGCTGCCCCCGAGTTACACACCCCCAGCTCGAACC c.60
M T R S P P L R E L P P S Y T P P A R T p.20
. | 02 . . . . . g.5953
GCAGCACCCCAG | ATCCTAGCTGGGAGCCTGAAGGCTCCACTCTGGCTTCGTGCTTACTTC c.120
A A P Q | I L A G S L K A P L W L R A Y F p.40
. . . . . . g.6013
CAGGGCCTGCTCTTCTCTCTGGGATGCGGGATCCAGAGACATTGTGGCAAAGTGCTCTTT c.180
Q G L L F S L G C G I Q R H C G K V L F p.60
. . . . . . g.6073
CTGGGACTGTTGGCCTTTGGGGCCCTGGCATTAGGTCTCCGCATGGCCATTATTGAGACA c.240
L G L L A F G A L A L G L R M A I I E T p.80
. . | 03 . . . . g.15638
AACTTGGAACAGCTCTGGGTAGAAG | TGGGCAGCCGGGTGAGCCAGGAGCTGCATTACACC c.300
N L E Q L W V E V | G S R V S Q E L H Y T p.100
. . . . . . g.15698
AAGGAGAAGCTGGGGGAGGAGGCTGCATACACCTCTCAGATGCTGATACAGACCGCACGC c.360
K E K L G E E A A Y T S Q M L I Q T A R p.120
. . . . . . g.15758
CAGGAGGGAGAGAACATCCTCACACCCGAAGCACTTGGCCTCCACCTCCAGGCAGCCCTC c.420
Q E G E N I L T P E A L G L H L Q A A L p.140
. . . | 04 . . . g.15925
ACTGCCAGTAAAGTCCAAGTATCACTCTATGGGAA | GTCCTGGGATTTGAACAAAATCTGC c.480
T A S K V Q V S L Y G K | S W D L N K I C p.160
. . . . | 05 . . g.16162
TACAAGTCAGGAGTTCCCCTTATTGAAAATGGAATGATTGAGCGG | ATGATTGAGAAGCTG c.540
Y K S G V P L I E N G M I E R | M I E K L p.180
. . . . . . g.16222
TTTCCGTGCGTGATCCTCACCCCCCTCGACTGCTTCTGGGAGGGAGCCAAACTCCAAGGG c.600
F P C V I L T P L D C F W E G A K L Q G p.200
. | 06. . . . . g.16944
GGCTCCGCCTACCTGCC | CGGCCGCCCGGATATCCAGTGGACCAACCTGGATCCAGAGCAG c.660
G S A Y L P | G R P D I Q W T N L D P E Q p.220
. . . . . . g.17004
CTGCTGGAGGAGCTGGGTCCCTTTGCCTCCCTTGAGGGCTTCCGGGAGCTGCTAGACAAG c.720
L L E E L G P F A S L E G F R E L L D K p.240
. . . . . . g.17064
GCACAGGTGGGCCAGGCCTACGTGGGGCGGCCCTGTCTGCACCCTGATGACCTCCACTGC c.780
A Q V G Q A Y V G R P C L H P D D L H C p.260
. . . | 07 . . . g.17941
CCACCTAGTGCCCCCAACCATCACAGCAGGCAG | GCTCCCAATGTGGCTCACGAGCTGAGT c.840
P P S A P N H H S R Q | A P N V A H E L S p.280
. . . . . . g.18001
GGGGGCTGCCATGGCTTCTCCCACAAATTCATGCACTGGCAGGAGGAATTGCTGCTGGGA c.900
G G C H G F S H K F M H W Q E E L L L G p.300
. . . | 08 . . . g.18208
GGCATGGCCAGAGACCCCCAAGGAGAGCTGCTGAG | GGCAGAGGCCCTGCAGAGCACCTTC c.960
G M A R D P Q G E L L R | A E A L Q S T F p.320
. . . . . . g.18268
TTGCTGATGAGTCCCCGCCAGCTGTACGAGCATTTCCGGGGTGACTATCAGACACATGAC c.1020
L L M S P R Q L Y E H F R G D Y Q T H D p.340
. . . . . . g.18328
ATTGGCTGGAGTGAGGAGCAGGCCAGCACAGTGCTACAAGCCTGGCAGCGGCGCTTTGTG c.1080
I G W S E E Q A S T V L Q A W Q R R F V p.360
| 09 . . . . . . g.18468
CAG | CTGGCCCAGGAGGCCCTGCCTGAGAACGCTTCCCAGCAGATCCATGCCTTCTCCTCC c.1140
Q | L A Q E A L P E N A S Q Q I H A F S S p.380
. . . . . . g.18528
ACCACCCTGGATGACATCCTGCATGCGTTCTCTGAAGTCAGTGCTGCCCGTGTGGTGGGA c.1200
T T L D D I L H A F S E V S A A R V V G p.400
. | 10 . . . . . g.18677
GGCTATCTGCTCATG | CTGGCCTATGCCTGTGTGACCATGCTGCGGTGGGACTGCGCCCAG c.1260
G Y L L M | L A Y A C V T M L R W D C A Q p.420
. . . . . . g.18737
TCCCAGGGTTCCGTGGGCCTTGCCGGGGTACTGCTGGTGGCCCTGGCGGTGGCCTCAGGC c.1320
S Q G S V G L A G V L L V A L A V A S G p.440
. . . . . | 11 . g.18879
CTTGGGCTCTGTGCCCTGCTCGGCATCACCTTCAATGCTGCCACTACCCAG | GTGCTGCCC c.1380
L G L C A L L G I T F N A A T T Q | V L P p.460
. . . . . . g.18939
TTCTTGGCTCTGGGAATCGGCGTGGATGACGTATTCCTGCTGGCGCATGCCTTCACAGAG c.1440
F L A L G I G V D D V F L L A H A F T E p.480
. . | 12 . . . . g.19349
GCTCTGCCTGGCACCCCTCTCCAG | GAGCGCATGGGCGAGTGTCTGCAGCGCACGGGCACC c.1500
A L P G T P L Q | E R M G E C L Q R T G T p.500
. . . . . . g.19409
AGTGTCGTACTCACATCCATCAACAACATGGCCGCCTTCCTCATGGCTGCCCTCGTTCCC c.1560
S V V L T S I N N M A A F L M A A L V P p.520
. . . | 13 . . . g.19560
ATCCCTGCGCTGCGAGCCTTCTCCCTACAG | GCGGCCATAGTGGTTGGCTGCACCTTTGTA c.1620
I P A L R A F S L Q | A A I V V G C T F V p.540
. . . . . . g.19620
GCCGTGATGCTTGTCTTCCCAGCCATCCTCAGCCTGGACCTACGGCGGCGCCACTGCCAG c.1680
A V M L V F P A I L S L D L R R R H C Q p.560
. . | 14 . . . g.19784
CGCCTTGATGTGCTCTGCTGCTTCTCCAG | TCCCTGCTCTGCTCAGGTGATTCAGATCCTG c.1740
R L D V L C C F S S | P C S A Q V I Q I L p.580
. . . . . . g.19844
CCCCAGGAGCTGGGGGACGGGACAGTACCAGTGGGCATTGCCCACCTCACTGCCACAGTT c.1800
P Q E L G D G T V P V G I A H L T A T V p.600
. . . . . . g.19904
CAAGCCTTTACCCACTGTGAAGCCAGCAGCCAGCATGTGGTCACCATCCTGCCTCCCCAA c.1860
Q A F T H C E A S S Q H V V T I L P P Q p.620
. . . . . . g.19964
GCCCACCTGGTGCCCCCACCTTCTGACCCACTGGGCTCTGAGCTCTTCAGCCCTGGAGGG c.1920
A H L V P P P S D P L G S E L F S P G G p.640
. . . . . . g.20024
TCCACACGGGACCTTCTAGGCCAGGAGGAGGAGACAAGGCAGAAGGCAGCCTGCAAGTCC c.1980
S T R D L L G Q E E E T R Q K A A C K S p.660
. . . . . . g.20084
CTGCCCTGTGCCCGCTGGAATCTTGCCCATTTCGCCCGCTATCAGTTTGCCCCGTTGCTG c.2040
L P C A R W N L A H F A R Y Q F A P L L p.680
. | 15 . . . . g.20272
CTCCAGTCACATGCTAAG | GCCATCGTGCTGGTGCTCTTTGGTGCTCTTCTGGGCCTGAGC c.2100
L Q S H A K | A I V L V L F G A L L G L S p.700
. . . . . . g.20332
CTCTACGGAGCCACCTTGGTGCAAGACGGCCTGGCCCTGACGGATGTGGTGCCTCGGGGC c.2160
L Y G A T L V Q D G L A L T D V V P R G p.720
. . . . . . g.20392
ACCAAGGAGCATGCCTTCCTGAGCGCCCAGCTCAGGTACTTCTCCCTGTACGAGGTGGCC c.2220
T K E H A F L S A Q L R Y F S L Y E V A p.740
. . . . . . g.20452
CTGGTGACCCAGGGTGGCTTTGACTACGCCCACTCCCAACGCGCCCTCTTTGATCTGCAC c.2280
L V T Q G G F D Y A H S Q R A L F D L H p.760
. . . . . . g.20512
CAGCGCTTCAGTTCCCTCAAGGCGGTGCTGCCCCCACCGGCCACCCAGGCACCCCGCACC c.2340
Q R F S S L K A V L P P P A T Q A P R T p.780
. . . | 16 . . . g.20664
TGGCTGCACTATTACCGCAACTGGCTACAGG | GAATCCAGGCTGCCTTTGACCAGGACTGG c.2400
W L H Y Y R N W L Q G | I Q A A F D Q D W p.800
. . . . . . g.20724
GCTTCTGGGCGCATCACCCGCCACTCGTACCGCAATGGCTCTGAGGATGGGGCCCTGGCC c.2460
A S G R I T R H S Y R N G S E D G A L A p.820
. . . . . | 17 . g.20868
TACAAGCTGCTCATCCAGACTGGAGACGCCCAGGAGCCTCTGGATTTCAGCCAG | CTGACC c.2520
Y K L L I Q T G D A Q E P L D F S Q | L T p.840
. . . . . . g.20928
ACAAGGAAGCTGGTGGACAGAGAGGGACTGATTCCACCCGAGCTCTTCTACATGGGGCTG c.2580
T R K L V D R E G L I P P E L F Y M G L p.860
. . . . . . g.20988
ACCGTGTGGGTGAGCAGTGACCCCCTGGGTCTGGCAGCCTCACAGGCCAACTTCTACCCC c.2640
T V W V S S D P L G L A A S Q A N F Y P p.880
. . . . . | 18 . g.21181
CCACCTCCTGAATGGCTGCACGACAAATACGACACCACGGGGGAGAACCTTCGCA | TCCCG c.2700
P P P E W L H D K Y D T T G E N L R I | P p.900
. . . . . . g.21241
CCAGCTCAGCCCTTGGAGTTTGCCCAGTTCCCCTTCCTGCTGCGTGGCCTCCAGAAGACT c.2760
P A Q P L E F A Q F P F L L R G L Q K T p.920
. . . . . . g.21301
GCAGACTTTGTGGAGGCCATCGAGGGGGCCCGGGCAGCATGCGCAGAGGCCGGCCAGGCT c.2820
A D F V E A I E G A R A A C A E A G Q A p.940
. . . . . . g.21361
GGGGTGCACGCCTACCCCAGCGGCTCCCCCTTCCTCTTCTGGGAACAGTATCTGGGCCTG c.2880
G V H A Y P S G S P F L F W E Q Y L G L p.960
. . . . . . g.21421
CGGCGCTGCTTCCTGCTGGCCGTCTGCATCCTGCTGGTGTGCACTTTCCTCGTCTGTGCT c.2940
R R C F L L A V C I L L V C T F L V C A p.980
. . . | 19 . . . g.21581
CTGCTGCTCCTCAACCCCTGGACGGCTGGCCTCATA | GTGCTGGTCCTGGCGATGATGACA c.3000
L L L L N P W T A G L I | V L V L A M M T p.1000
. . . . . . g.21641
GTGGAACTCTTTGGTATCATGGGTTTCCTGGGCATCAAGCTGAGTGCCATCCCCGTGGTG c.3060
V E L F G I M G F L G I K L S A I P V V p.1020
. . . . . | 20 . g.24565
ATCCTTGTGGCCTCTGTAGGCATTGGCGTTGAGTTCACAGTCCACGTGGCTCTG | GGCTTC c.3120
I L V A S V G I G V E F T V H V A L | G F p.1040
. . . . . . g.24625
CTGACCACCCAGGGCAGCCGGAACCTGCGGGCCGCCCATGCCCTTGAGCACACATTTGCC c.3180
L T T Q G S R N L R A A H A L E H T F A p.1060
. . . . . . g.24685
CCCGTGACCGATGGGGCCATCTCCACATTGCTGGGTCTGCTCATGCTTGCTGGTTCCCAC c.3240
P V T D G A I S T L L G L L M L A G S H p.1080
. | 21. . . . . g.24819
TTTGACTTCATTGTAAG | GTACTTCTTTGCGGCGCTGACAGTGCTCACGCTCCTGGGCCTC c.3300
F D F I V R | Y F F A A L T V L T L L G L p.1100
. . . . . | 22. g.25278
CTCCATGGACTCGTGCTGCTGCCTGTGCTGCTGTCCATCCTGGGCCCGCCGCCAGAG | GTG c.3360
L H G L V L L P V L L S I L G P P P E | V p.1120
. . . . . . g.25338
ATACAGATGTACAAGGAAAGCCCAGAGATCCTGAGTCCACCAGCTCCACAGGGAGGCGGG c.3420
I Q M Y K E S P E I L S P P A P Q G G G p.1140
. . . . . . g.25398
CTTAGGTGGGGGGCATCCTCCTCCCTGCCCCAGAGCTTTGCCAGAGTGACTACCTCCATG c.3480
L R W G A S S S L P Q S F A R V T T S M p.1160
. . . . . . g.25458
ACCGTGGCCATCCACCCACCCCCCCTGCCTGGTGCCTACATCCATCCAGCCCCTGATGAG c.3540
T V A I H P P P L P G A Y I H P A P D E p.1180
. . . . . . g.25518
CCCCCTTGGTCCCCTGCTGCCACTAGCTCTGGCAACCTCAGTTCCAGGGGACCAGGTCCA c.3600
P P W S P A A T S S G N L S S R G P G P p.1200
. g.25530
GCCACTGGGTGA c.3612
A T G X p.1203
. . . . . . g.25590
aagagcagctgaagcacagagaccatgtgtggggcgtgtggggtcactgggaagcactgg c.*60
. . . . . . g.25650
gtctggtgttagacgcaggatggacccctggagggccctgctgctgctgcatcccctctc c.*120
. . g.25679
ccgacccagctgtcatgggcctccctgat c.*149
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 19a
©2004-2017 Leiden University Medical Center