(used for variant description)
(last modified April 30, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001195263.1 in the PDZD7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028030.1, covering PDZD7 transcript NM_001195263.1.
(upstream sequence)
. g.5010
agcgtgggtg c.-241
. . . . . . g.5070
gggtttgccggctgcggcagtagctctcgcctgcgggtggtttgacaaggctggcggcgc c.-181
. . | 02 . . . . g.5818
cacaccagcgaccag | gcctggagctcacacttctgagaggcatcgcaagcgagggccttc c.-121
. . . . . . g.5878
acgttactgagaccccagccccgcacagaggctcatggagctcgaagcacgcagggctgg c.-61
. . . . . . g.5938
cctctccagagctagcagattccttctggacctgtagggtgccgccctagcccagccgcc c.-1
. . . . . . g.5998
ATGGCGCAGGGTTTCGCAGTGGGCTTCGACCCACTGGGCCTAGGAGACCTGAGCTCCGGC c.60
M A Q G F A V G F D P L G L G D L S S G p.20
. . . . . . g.6058
TCTCTGAGCTCCCTCTCCTCCCGAGGCCACCTAGGCAGCGACTCAGGCTCCACCGCAACG c.120
S L S S L S S R G H L G S D S G S T A T p.40
. . . . . . g.6118
CGATACCTGCTAAGGAAGCAACAACGGCTGCTGAACGGGCCCCCCCGCGGAATCCGAGCC c.180
R Y L L R K Q Q R L L N G P P R G I R A p.60
. . . . | 03 . . g.12103
TCATCGCCCATGGGACGCGTCATCCTCATCAACTCCCCCATCGAAG | CCAACAGTGATGAA c.240
S S P M G R V I L I N S P I E A | N S D E p.80
. . . . . . g.12163
AGTGACATCATCCATTCAGTCCGGGTGGAGAAGAGTCCAGCAGGGAGGCTGGGCTTCAGC c.300
S D I I H S V R V E K S P A G R L G F S p.100
. . . . . . g.12223
GTGCGCGGGGGCTCAGAGCATGGCCTGGGCATCTTCGTCAGCAAAGTGGAGGAAGGCAGC c.360
V R G G S E H G L G I F V S K V E E G S p.120
| 04. . . . . . g.12600
AGTGCAG | AGCGGGCTGGCCTGTGCGTGGGGGACAAGATCACGGAGGTGAATGGGCTGAGC c.420
S A E | R A G L C V G D K I T E V N G L S p.140
. . . . . . g.12660
CTGGAGAGCACCACCATGGGTAGCGCCGTAAAGGTGCTGACCAGCAGCAGCCGCCTGCAC c.480
L E S T T M G S A V K V L T S S S R L H p.160
. . . . . . g.12720
ATGATGGTTCGGCGCATGGGCCGTGTGCCGGGCATCAAGTTCTCCAAGGAGAAGACCACG c.540
M M V R R M G R V P G I K F S K E K T T p.180
| 05 . . . . . . g.13830
TG | GGTGGATGTGGTGAATCGGCGCCTGGTAGTGGAGAAGTGCGGTTCAACACCCTCCGAC c.600
W | V D V V N R R L V V E K C G S T P S D p.200
. . . . . . g.13890
ACCAGCTCAGAAGATGGTGTCCGGCGCATCGTCCACCTATACACAACCTCCGACGACTTC c.660
T S S E D G V R R I V H L Y T T S D D F p.220
. . . . . | 06 g.14213
TGCCTGGGCTTCAACATCCGTGGGGGCAAGGAGTTTGGCCTGGGCATCTATGTGTCCAA | A c.720
C L G F N I R G G K E F G L G I Y V S K | p.240
. . . . . . g.14273
GTGGACCATGGTGGGCTGGCCGAGGAGAATGGCATCAAGGTGGGGGACCAGGTCCTGGCA c.780
V D H G G L A E E N G I K V G D Q V L A p.260
. . . . . . g.14333
GCCAACGGTGTCAGGTTTGACGACATCAGCCACAGCCAGGCCGTGGAGGTGCTGAAGGGC c.840
A N G V R F D D I S H S Q A V E V L K G p.280
. . | 07. . . . g.15512
CAAACGCACATCATGCTGACCATCAAG | GAGACCGGCCGGTATCCTGCCTACAAGGAGATG c.900
Q T H I M L T I K | E T G R Y P A Y K E M p.300
. . | 08 . . . g.16972
GTTTCTGAGTACTGCTGGCTGGACCGAC | TGAGCAACGGGGTGCTGCAGCAGCTGTCCCCG c.960
V S E Y C W L D R L | S N G V L Q Q L S P p.320
. . . . . . g.17032
GCCTCTGAGAGCAGCTCCAGCGTCTCTTCGTGCGCCTCCAGCGCCCCCTACAGCTCGGGC c.1020
A S E S S S S V S S C A S S A P Y S S G p.340
. . . . . . g.17092
TCCCTGCCGTCGGACCGCATGGACATCTGCCTCGGGCAGGAGGAGCCCGGCAGCCGCGGC c.1080
S L P S D R M D I C L G Q E E P G S R G p.360
. . . . . . g.17152
CCAGGCTGGGGGCGGGCGGACACAGCCATGCAGACGGAGCCCGATGCGGGAGGCCGGGTG c.1140
P G W G R A D T A M Q T E P D A G G R V p.380
. . . . . . g.17212
GAGACCTGGTGCAGCGTGCGGCCCACAGTCATCCTCAGGGACACCGCCATCCGCTCGGAC c.1200
E T W C S V R P T V I L R D T A I R S D p.400
. . . . . . g.17272
GGCCCCCATCCCGGCCGCCGCCTTGACTCTGCGCTCTCTGAGTCTCCCAAGACGGCTTTG c.1260
G P H P G R R L D S A L S E S P K T A L p.420
. . . . . . g.17332
CTGCTGGCCCTCAGCCGACCCCGGCCCCCCATCACGCGCTCCCAGAGCTATCTGACCTTG c.1320
L L A L S R P R P P I T R S Q S Y L T L p.440
| 09 . . . . . . g.17917
TGGG | AGGAGAAGCAGCAGCGGAAGAAGGAGAAGTCGGGGTCCCCTGGGGAGAAGGGTGCC c.1380
W E | E K Q Q R K K E K S G S P G E K G A p.460
. . . . . . g.17977
CTGCAGCGCTCCAAGACGCTGATGAACCTCTTCTTCAAGGGAGGGCGGCAGGGGAGGCTA c.1440
L Q R S K T L M N L F F K G G R Q G R L p.480
. . . . . . g.18037
GCGCGGGACGGGCGCAGAGAGGCCTGGACACTGGACAGCGGGAGCCTGGCCAAAACTTAC c.1500
A R D G R R E A W T L D S G S L A K T Y p.500
. . | 10 . . . . g.19768
CCTCGCCTGGACATAGAGAAAG | CAGGGGGCGTGGGCCCGGTACAGAAGTTTGTCACCTGG c.1560
P R L D I E K A | G G V G P V Q K F V T W p.520
. | 11 . . . . . g.20393
AGACTGAGACGTG | ACCAGGAGAGGGGCCGGGCCCTGCTGTCTGCCAGGTCTGGGAGTCCC c.1620
R L R R D | Q E R G R A L L S A R S G S P p.540
. . . . . . g.20453
TCCAGCCAGCTGCCTAATGTGGATGAGCAGGTTCAGGCCTGGGAGAGCCGGCGGCCCCTC c.1680
S S Q L P N V D E Q V Q A W E S R R P L p.560
. . . . . . g.20513
ATTCAGGACCTGGCCCAGAGGCTGCTGACTGATGACGAGGTGCTGGCTGTCACCCGCCAC c.1740
I Q D L A Q R L L T D D E V L A V T R H p.580
| 12 . . . . . g.23950
TGCTCCCGG | TATGTGCACGAGGGAGGCATAGAGGACCTGGTGAGGCCCCTGCTGGCCATC c.1800
C S R | Y V H E G G I E D L V R P L L A I p.600
. . . . | 13 . . g.24160
CTCGACAGGCCGGAGAAGCTGCTACTGCTGCAGGACATCAG | GAGTGTGGTGGCCCCCACA c.1860
L D R P E K L L L L Q D I R | S V V A P T p.620
. . . . . . g.24220
GACCTGGGCCGCTTCGACAGCATGGTGATGCTTGTGGAGCTGGAGGCTTTTGAGGCCCTC c.1920
D L G R F D S M V M L V E L E A F E A L p.640
. | 14 . . . . . g.24443
AAGAGCAGGGCAG | TCCGGCCTCCTGCTTTGAGACCAGCCCGGCAGGACACGCCACCCAAG c.1980
K S R A V | R P P A L R P A R Q D T P P K p.660
. . | 15 . . . . g.25309
CGTCACCTTATCACCCCCGTGCCTG | ACAGCCGCGGAGGCTTCTACCTGCTGCCGGTGAAC c.2040
R H L I T P V P D | S R G G F Y L L P V N p.680
. . . . . . g.25369
GGCTTCCCGGAAGAGGAAGATAATGGGGAGCTGAGGGAGCGGCTGGGGGCCCTCAAGGTC c.2100
G F P E E E D N G E L R E R L G A L K V p.700
. . . . . . g.25429
TCCCCAAGTGCCTCTGCCCCTCGCCACCCCCATAAAGGGATCCCCCCTCTACAAGACGTG c.2160
S P S A S A P R H P H K G I P P L Q D V p.720
. . . . . . g.25489
CCAGTAGATGCCTTCACCCCCCTCCGAATTGCCTGCACACCCCCTCCCCAGCTACCCCCC c.2220
P V D A F T P L R I A C T P P P Q L P P p.740
. . . . . . g.25549
GTGGCTCCCCGGCCCCTGCGGCCTAACTGGCTGCTGACAGAACCCCTGAGCCGAGAGCAC c.2280
V A P R P L R P N W L L T E P L S R E H p.760
. . . . . . g.25609
CCTCCGCAGAGCCAGATCCGGGGCCGGGCTCAGAGCCGTAGCCGCAGCCGTAGCCGCAGC c.2340
P P Q S Q I R G R A Q S R S R S R S R S p.780
. . . . . . g.25669
CGCAGCCGCAGCAGCCGGGGTCAAGGCAAGTCTCCAGGTAGACGCTCCCCATCCCCGGTG c.2400
R S R S S R G Q G K S P G R R S P S P V p.800
. . . . . . g.25729
CCTACCCCTGCCCCCAGCATGACCAATGGGCGCTACCACAAGCCTCGGAAGGCCAGACCC c.2460
P T P A P S M T N G R Y H K P R K A R P p.820
. . . . . . g.25789
CCTCTGCCACGACCTCTGGATGGGGAGGCAGCCAAGGTGGGGGCCAAGCAAGGGCCCTCG c.2520
P L P R P L D G E A A K V G A K Q G P S p.840
. . . . . . g.25849
GAGAGTGGAACTGAGGGGACGGCCAAGGAGGCAGCCATGAAGAACCCCAGTGGCGAGCTG c.2580
E S G T E G T A K E A A M K N P S G E L p.860
. . . | 16. . . g.26830
AAGACAGTGACACTGTCCAAGATGAAGCAGTCCTTAG | GTATCAGCATTTCTGGGGGCATT c.2640
K T V T L S K M K Q S L G | I S I S G G I p.880
. . . . . . g.26890
GAGTCCAAGGTGCAGCCCATGGTGAAGATAGAGAAGATCTTCCCTGGGGGGGCCGCTTTC c.2700
E S K V Q P M V K I E K I F P G G A A F p.900
. | 17 . . . . g.27349
CTCAGTGGGGCCCTGCAG | GCTGGCTTCGAGCTTGTGGCAGTGGACGGAGAGAATCTAGAG c.2760
L S G A L Q | A G F E L V A V D G E N L E p.920
. . . . . . g.27409
CAGGTGACCCACCAGCGTGCAGTAGACACCATCCGTCGGGCTTATCGAAACAAGGCCCGG c.2820
Q V T H Q R A V D T I R R A Y R N K A R p.940
. . . . . . g.27469
GAGCCCATGGAGCTTGTGGTCAGGGTCCCCGGGCCCAGCCCACGGCCCTCACCCTCTGAC c.2880
E P M E L V V R V P G P S P R P S P S D p.960
. . . . . . g.27529
TCATCAGCCCTTACTGATGGGGGCCTTCCTGCTGACCACTTGCCTGCCCACCAACCCCTT c.2940
S S A L T D G G L P A D H L P A H Q P L p.980
. . . . . . g.27589
GATGCTGCTCCAGTTCCTGCCCACTGGCTCCCAGAACCTCCCACCAATCCCCAGACTCCT c.3000
D A A P V P A H W L P E P P T N P Q T P p.1000
. . . . . . g.27649
CCCACTGATGCCAGGCTCCTCCAGCCAACTCCCAGCCCAGCCCCCTCCCCAGCCCTCCAG c.3060
P T D A R L L Q P T P S P A P S P A L Q p.1020
. . . . g.27691
ACTCCTGATTCTAAGCCCGCACCCTCCCCACGCATCCCATGA c.3102
T P D S K P A P S P R I P X p.1033
. . . . . . g.27751
ccctccccctaacctcagattcacccactgactccagcatcccgttatccccaggacctc c.*60
. . . . . . g.27811
tcctaccaacttcttcaggactctccagctcctgcccaccctgcctcctcccagtgccac c.*120
. . . . . . g.27871
actggtggctcacatctttccactttcttccctcctcagctgtcattaaggctctgcctt c.*180
. . . . . . g.27931
agtgtccaaggacaaggtgctagtgggcagcctgtgtcacctgcactcactgctccccaa c.*240
. . . . . . g.27991
cctcccaagccaggatagggggtgagaaagccaaggtctggagcttgggattggtgggca c.*300
. . . . . . g.28051
ctttctcacatgctgtcccttatgagtcgcccaagcctccagggacacagactctcagac c.*360
. . . . . . g.28111
agggccctgaaggggtcaatgcatccattcctcaaccccaagcagcattctgtgcaagga c.*420
. . . . . . g.28171
aacggatgaaaggcttttctagtccctgaaatcctgagagatcatttcacgttggggtcc c.*480
. . . . . . g.28231
actaagacctcagacattctactggatttgtccttcctccatcaccttttctccccaaga c.*540
. . . . . . g.28291
gagctctatgagggggaggagaatagccagcaaatggtgggggggggggggtcaaacaag c.*600
. . . . . . g.28351
ttcctgtactctttatccagcacattcacattatttttaaacaaaaaaattttttttaat c.*660
. . . . . . g.28411
tttttctttgggtttgtacaagaaatttacagtgtgaaaaatatacaagtgaaaacgagg c.*720
. . . . . . g.28471
ccataaacctgggtgaagggagaggctgcttggtcacaaacacaaataaacaagacattt c.*780
g.28475
ctga c.*784
(downstream sequence)
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