(used for variant description)
(last modified February 28, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_018418.4 in the SPATA7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021183.1, covering SPATA7 transcript NM_018418.4.
(upstream sequence)
. . . . . g.5055
acaatagcgactcactggacccagcccttagcaacggcctggcgacggtttccct c.-121
. . . . . . g.5115
gctgctgcagcccccgtcggctcctcttttccagtcctccactgccggggctgggcccgg c.-61
. . . . . . g.5175
ccgcgggaaggaccgaaggggatacagcgtgtccctgcggcggctgcaagaggactaagc c.-1
. | 02 . . . . g.10778
ATGGATGGCAGCCGGAGAG | TCAGAGCAACCTCTGTCCTTCCCAGATATGGTCCACCGTGC c.60
M D G S R R V | R A T S V L P R Y G P P C p.20
. . . | 03 . . . g.12775
CTATTTAAAGGACACTTGAGCACCAAAAGTAATG | CTTTTTGCACTGACTCCTCTTCTCTC c.120
L F K G H L S T K S N A | F C T D S S S L p.40
. . . . . . g.12835
AGACTAAGCACTCTCCAGCTGGTCAAGAATCACATGGCTGTTCACTATAATAAAATCCTT c.180
R L S T L Q L V K N H M A V H Y N K I L p.60
. | 04 . . . . | 05 g.36069
TCAGCCAAAG | CTGCAGTAGACTGCTCGGTTCCAGTAAGCGTGAGTACCAGCATAAAGT | AT c.240
S A K A | A V D C S V P V S V S T S I K Y | p.80
. . . . . . g.36129
GCAGACCAACAACGAAGAGAGAAACTCAAAAAGGAATTAGCACAATGTGAAAAAGAGTTC c.300
A D Q Q R R E K L K K E L A Q C E K E F p.100
. . . . . . g.36189
AAATTAACTAAAACTGCAATGCGAGCCAATTATAAAAATAATTCCAAGTCACTTTTTAAT c.360
K L T K T A M R A N Y K N N S K S L F N p.120
. | 06 . . . . . g.45636
ACCTTACAAAAG | CCCTCAGGCGAACCGCAAATTGAGGATGACATGTTAAAAGAAGAAATG c.420
T L Q K | P S G E P Q I E D D M L K E E M p.140
. . . . . . g.45696
AATGGATTTTCATCCTTTGCAAGGTCACTAGTACCCTCTTCAGAGAGACTACACCTAAGT c.480
N G F S S F A R S L V P S S E R L H L S p.160
. . . . . . g.45756
CTACATAAATCCAGTAAAGTCATCACAAATGGTCCTGAGAAGAACTCCAGTTCCTCCCCG c.540
L H K S S K V I T N G P E K N S S S S P p.180
. . . . . . g.45816
TCCAGTGTGGATTATGCAGCCTCCGGGCCCCGGAAACTGAGCTCTGGAGCCCTGTATGGC c.600
S S V D Y A A S G P R K L S S G A L Y G p.200
. . . . . . g.45876
AGAAGGCCCAGAAGCACATTCCCAAATTCCCACCGGTTTCAGTTAGTCATTTCGAAAGCA c.660
R R P R S T F P N S H R F Q L V I S K A p.220
. . . . . . g.45936
CCCAGTGGGGATCTTTTGGATAAACATTCTGAACTCTTTTCTAACAAACAATTGCCATTC c.720
P S G D L L D K H S E L F S N K Q L P F p.240
. . . . . . g.45996
ACTCCTCGCACTTTAAAAACAGAAGCAAAATCTTTCCTGTCACAGTATCGCTATTATACA c.780
T P R T L K T E A K S F L S Q Y R Y Y T p.260
. . . . . . g.46056
CCTGCCAAAAGAAAAAAGGATTTTACAGATCAACGGATAGAAGCTGAAACCCAGACTGAA c.840
P A K R K K D F T D Q R I E A E T Q T E p.280
| 07 . . . . . . g.47041
TTAAG | CTTTAAATCTGAGTTGGGGACAGCTGAGACTAAAAACATGACAGATTCAGAAATG c.900
L S | F K S E L G T A E T K N M T D S E M p.300
. | 08 . . . . . g.48752
AACATAAAGCAG | GCATCTAATTGTGTGACATATGATGCCAAAGAAAAAATAGCTCCTTTA c.960
N I K Q | A S N C V T Y D A K E K I A P L p.320
. . . . . . g.48812
CCTTTAGAAGGGCATGACTCAACATGGGATGAGATTAAGGATGATGCTCTTCAGCATTCC c.1020
P L E G H D S T W D E I K D D A L Q H S p.340
| 09 . . . . . g.50580
TCACCAAG | GGCAATGTGTCAGTATTCCCTGAAGCCCCCTTCAACTCGTAAAATCTACTCT c.1080
S P R | A M C Q Y S L K P P S T R K I Y S p.360
| 10 . . . . . . g.52549
GA | TGAAGAAGAACTGTTGTATCTGAGTTTCATTGAAGATGTAACAGATGAAATTTTGAAA c.1140
D | E E E L L Y L S F I E D V T D E I L K p.380
. . | 11 . . . . g.56939
CTTGGTTTATTTTCAAACAG | GTTTTTAGAACGACTGTTCGAGCGACATATAAAACAAAAT c.1200
L G L F S N R | F L E R L F E R H I K Q N p.400
. | 12 . . . . . g.57239
AAACATTTGGAGGAG | GAAAAAATGCGCCACCTGCTGCATGTCCTGAAAGTAGACTTAGGC c.1260
K H L E E | E K M R H L L H V L K V D L G p.420
. . . . . . g.57299
TGCACATCGGAGGAAAACTCGGTAAAGCAAAATGATGTTGATATGTTGAATGTATTTGAT c.1320
C T S E E N S V K Q N D V D M L N V F D p.440
. . . . . . g.57359
TTTGAAAAGGCTGGGAATTCAGAACCAAATGAATTAAAAAATGAAAGTGAAGTAACAATT c.1380
F E K A G N S E P N E L K N E S E V T I p.460
. . . . . . g.57419
CAGCAGGAACGTCAACAATACCAAAAGGCTTTGGATATGTTATTGTCGGCACCAAAGGAT c.1440
Q Q E R Q Q Y Q K A L D M L L S A P K D p.480
. . . . . . g.57479
GAGAACGAGATATTCCCTTCACCAACTGAATTTTTCATGCCTATTTATAAATCAAAGCAT c.1500
E N E I F P S P T E F F M P I Y K S K H p.500
. . . . . . g.57539
TCAGAAGGGGTTATAATTCAACAGGTGAATGATGAAACAAATCTTGAAACTTCAACTTTG c.1560
S E G V I I Q Q V N D E T N L E T S T L p.520
. . . . . . g.57599
GATGAAAATCATCCAAGTATTTCAGACAGTTTAACAGATCGGGAAACTTCTGTGAATGTC c.1620
D E N H P S I S D S L T D R E T S V N V p.540
. . . . . . g.57659
ATTGAAGGTGATAGTGACCCTGAAAAGGTTGAGATTTCAAATGGATTATGTGGTCTTAAC c.1680
I E G D S D P E K V E I S N G L C G L N p.560
. . . . . . g.57719
ACATCACCCTCCCAATCTGTTCAGTTCTCCAGTGTCAAAGGCGACAATAATCATGACATG c.1740
T S P S Q S V Q F S S V K G D N N H D M p.580
. . . . . . g.57779
GAGTTATCAACTCTTAAAATCATGGAAATGAGCATTGAGGACTGCCCTTTGGATGTTTAA c.1800
E L S T L K I M E M S I E D C P L D V X p.599
. . . g.57817
tcttcattaataaatacctcaaatggccagtaactcaa c.*38
(downstream sequence)
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