(used for variant description)
(last modified June 23, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_078480.2 in the PUF60 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering PUF60 transcript NM_078480.2.
(upstream sequence)
. . g.5023
tccgtgcaccggcacccagatcg c.-61
. . . . . . g.5083
cgcgagacagcggaaggagcaagagtgggaggcgcgcgcggaggccgcgacggacgcaag c.-1
. . | 02 . . . . g.10023
ATGGCGACGGCGACCATAGCTCTC | CAGGTCAATGGCCAGCAAGGAGGGGGGTCCGAGCCG c.60
M A T A T I A L | Q V N G Q Q G G G S E P p.20
. . . . . | 03 . g.12482
GCGGCGGCGGCGGCAGTGGTGGCAGCGGGAGACAAATGGAAACCTCCACAG | GGCACAGAC c.120
A A A A A V V A A G D K W K P P Q | G T D p.40
. . . . . . g.12542
TCCATCAAGATGGAGAACGGGCAGAGCACAGCCGCCAAGCTGGGGCTGCCTCCCCTGACG c.180
S I K M E N G Q S T A A K L G L P P L T p.60
. . | 04. . . . g.12733
CCCGAGCAGCAGGAGGCCCTTCAGAAG | GCCAAGAAGTACGCCATGGAGCAGAGCATCAAG c.240
P E Q Q E A L Q K | A K K Y A M E Q S I K p.80
. . . . . | 05. g.13673
AGTGTGCTGGTGAAGCAGACCATCGCGCACCAGCAGCAGCAGCTCACCAACCTGCAG | ATG c.300
S V L V K Q T I A H Q Q Q Q L T N L Q | M p.100
. . . . | 06 . g.15864
GCAGCAGTGACAATGGGCTTTGGAGATCCTCTCTCACCTTTGCAATCG | ATGGCGGCTCAG c.360
A A V T M G F G D P L S P L Q S | M A A Q p.120
. . . . . . g.15924
CGGCAGCGGGCGCTGGCCATCATGTGCCGCGTCTACGTGGGCTCTATCTACTATGAGCTG c.420
R Q R A L A I M C R V Y V G S I Y Y E L p.140
. . . . . . g.15984
GGGGAGGACACCATCCGCCAGGCCTTTGCCCCCTTTGGCCCCATCAAGAGCATCGACATG c.480
G E D T I R Q A F A P F G P I K S I D M p.160
. . . | 07 . . . g.16131
TCCTGGGACTCCGTCACCATGAAGCACAAG | GGCTTTGCCTTCGTGGAGTATGAGGTCCCC c.540
S W D S V T M K H K | G F A F V E Y E V P p.180
. . . . . . g.16191
GAAGCTGCACAGCTGGCCTTGGAGCAGATGAACTCGGTGATGCTGGGGGGCAGGAACATC c.600
E A A Q L A L E Q M N S V M L G G R N I p.200
| 08 . . . . . . g.16368
AAG | GTGGGCAGACCCAGCAACATAGGGCAGGCCCAGCCCATCATAGACCAGTTGGCTGAG c.660
K | V G R P S N I G Q A Q P I I D Q L A E p.220
. . . . . . g.16428
GAGGCACGGGCCTTCAACCGCATCTACGTGGCCTCTGTGCACCAGGACCTCTCAGACGAT c.720
E A R A F N R I Y V A S V H Q D L S D D p.240
. . . . . . g.16488
GACATCAAGAGCGTGTTTGAGGCCTTTGGCAAGATCAAGTCCTGCACACTGGCCCGGGAC c.780
D I K S V F E A F G K I K S C T L A R D p.260
. . . | 09. . . g.16627
CCCACAACTGGCAAGCACAAGGGCTACGGCTTCATTG | AGTACGAGAAGGCCCAGTCGTCC c.840
P T T G K H K G Y G F I E | Y E K A Q S S p.280
. . . . . . g.16687
CAAGATGCTGTGTCTTCCATGAACCTCTTTGACCTGGGTGGCCAGTACTTGCGGGTGGGC c.900
Q D A V S S M N L F D L G G Q Y L R V G p.300
. . . . . . g.16747
AAGGCTGTCACACCGCCCATGCCCCTACTCACACCAGCCACGCCTGGAGGCCTCCCACCT c.960
K A V T P P M P L L T P A T P G G L P P p.320
. . . . | 10 . g.16932
GCCGCTGCTGTGGCAGCTGCTGCAGCCACTGCCAAGATCACAGCTCAG | GAAGCAGTGGCC c.1020
A A A V A A A A A T A K I T A Q | E A V A p.340
. . . . . . g.16992
GGAGCAGCGGTGCTGGGTACCCTGGGCACACCTGGACTGGTGTCCCCAGCACTGACCCTG c.1080
G A A V L G T L G T P G L V S P A L T L p.360
. . . . . . g.17052
GCCCAGCCCCTGGGCACTTTGCCCCAGGCTGTCATGGCTGCCCAGGCACCTGGAGTCATC c.1140
A Q P L G T L P Q A V M A A Q A P G V I p.380
| 11 . . . . . . g.17297
ACAG | GTGTGACCCCAGCCCGTCCTCCTATCCCGGTCACCATCCCCTCGGTGGGAGTGGTG c.1200
T G | V T P A R P P I P V T I P S V G V V p.400
. . . . . . g.17357
AACCCCATCCTGGCCAGCCCTCCAACGCTGGGTCTCCTGGAGCCCAAGAAGGAGAAGGAA c.1260
N P I L A S P P T L G L L E P K K E K E p.420
. . . . . . g.17417
GAAGAGGAGCTGTTTCCCGAGTCAGAGCGGCCAGAGATGCTGAGCGAGCAGGAGCACATG c.1320
E E E L F P E S E R P E M L S E Q E H M p.440
. . . . . . g.17477
AGCATCTCGGGCAGTAGCGCCCGACACATGGTGATGCAGAAGCTGCTCCGCAAGCAGGAG c.1380
S I S G S S A R H M V M Q K L L R K Q E p.460
| 12 . . . . . . g.17627
| TCTACAGTGATGGTTCTGCGCAACATGGTGGACCCCAAGGACATCGATGATGACCTGGAA c.1440
| S T V M V L R N M V D P K D I D D D L E p.480
. . . . . . g.17687
GGGGAGGTGACAGAGGAGTGTGGCAAGTTCGGGGCCGTGAACCGCGTCATCATCTACCAA c.1500
G E V T E E C G K F G A V N R V I I Y Q p.500
. . . . . . g.17747
GAGAAACAAGGCGAGGAGGAGGATGCAGAAATCATTGTCAAGATCTTTGTGGAGTTTTCC c.1560
E K Q G E E E D A E I I V K I F V E F S p.520
. . . . . . g.17807
ATAGCCTCTGAGACTCATAAGGCCATCCAGGCCCTCAATGGCCGCTGGTTTGCTGGCCGC c.1620
I A S E T H K A I Q A L N G R W F A G R p.540
. . . . . . g.17867
AAGGTGGTGGCTGAAGTGTACGACCAGGAGCGTTTTGATAACAGTGACCTCTCTGCGTGA c.1680
K V V A E V Y D Q E R F D N S D L S A X p.559
. . . . . . g.17927
cagtggtccctctccccggacttgcacttgttccttgtttcctctgggttttatagtgat c.*60
. . . . . . g.17987
acagtggtgtccccggggccaggcgcgctctgcccagcccagcctacagtgcggataaag c.*120
. . . . . g.18043
gtgcggatgctgctggccctgaacgtccgtgtgtctgccgtcggtcctgtcaccga c.*176
(downstream sequence)
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