(used for variant description)
(last modified January 17, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_153704.5 in the TMEM67 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009190.1, covering TMEM67 transcript NM_153704.5.
(upstream sequence)
. g.5011
aatcagctcag c.-61
. . . . . . g.5071
cgaagccgccgcagaggctgatggggggctggaggctgtgaggcttccagcgtcggtacc c.-1
. . . . . . g.5131
ATGGCGACGCGCGGTGGGGCTGGGGTGGCAATGGCGGTTTGGTCCCTCTTATCCGCCCGG c.60
M A T R G G A G V A M A V W S L L S A R p.20
. . . . . . g.5191
GCCGTGACCGCGTTCCTTCTGTTGTTCCTCCCTCGCTTCTTACAGGCCCAGACCTTCTCT c.120
A V T A F L L L F L P R F L Q A Q T F S p.40
. . . . . . g.5251
TTCCCTTTCCAGCAGCCGGAGAAGTGCGACAACAACCAGTACTTTGATATCTCCGCCCTC c.180
F P F Q Q P E K C D N N Q Y F D I S A L p.60
. . . . | 02 . . g.5951
TCGTGTGTTCCTTGTGGAGCTAACCAGAGGCAAGATGCCCGAG | GAACTTCATGTGTATGT c.240
S C V P C G A N Q R Q D A R G | T S C V C p.80
. . . . . . g.6011
CTACCAGGATTTCAGATGATCTCTAATAATGGAGGACCTGCTATTATTTGTAAAAAGTGC c.300
L P G F Q M I S N N G G P A I I C K K C p.100
. | 03 . . . . . g.8687
CCAGAAAACATG | AAAGGTGTTACAGAAGATGGCTGGAACTGCATTTCTTGCCCTAGTGAC c.360
P E N M | K G V T E D G W N C I S C P S D p.120
. . . . | 04 . . g.14012
TTAACTGCCGAAGGAAAATGTCACTGTCCCATTGGCCATATTTTAG | TGGAAAGAGACATT c.420
L T A E G K C H C P I G H I L V | E R D I p.140
. . . . . . g.14072
AATGGAACATTGTTGTCTCAAGCAACTTGTGAGCTCTGTGATGGAAATGAAAACTCTTTT c.480
N G T L L S Q A T C E L C D G N E N S F p.160
. . | 05 . . . . g.15596
ATGGTAGTAAATGCTTTAGGAGACAG | GTGCGTCCGATGTGAGCCAACATTTGTTAATACC c.540
M V V N A L G D R | C V R C E P T F V N T p.180
. . . | 06 . . . g.15752
AGCAGGTCCTGTGCATGTTCAGAACCTAACATTTTA | ACAGGGGGATTATGTTTCAGCAGC c.600
S R S C A C S E P N I L | T G G L C F S S p.200
. . . . . | 07 . g.22754
ACAGGGAATTTTCCTCTACGTAGAATTTCAGCTGCACGTTATGGAGAAGTT | GGCATGTCT c.660
T G N F P L R R I S A A R Y G E V | G M S p.220
. . . . . | 08 . g.30755
TTAACTTCAGAATGGTTTGCAAAGTATTTGCAATCATCAGCAGCTGCATGTTGG | GTATAT c.720
L T S E W F A K Y L Q S S A A A C W | V Y p.240
. . . . . . g.30815
GCCAATCTAACATCTTGTCAAGCTCTTGGAAATATGTGTGTGATGAACATGAATTCTTAC c.780
A N L T S C Q A L G N M C V M N M N S Y p.260
. . . . . . g.30875
GACTTTGCCACATTTGATGCATGTGGACTATTTCAGTTTATCTTTGAAAATACTGCTGGA c.840
D F A T F D A C G L F Q F I F E N T A G p.280
. . | 09 . . . g.31061
CTGAGCACTGTTCATTCTATTTCATTTTG | GAGACAGAATCTTCCTTGGCTGTTTTATGGA c.900
L S T V H S I S F W | R Q N L P W L F Y G p.300
. . . . . . g.31121
GACCAGTTAGGATTAGCACCTCAAGTGCTCAGTTCTACCTCTCTTCCTACAAATTTCAGT c.960
D Q L G L A P Q V L S S T S L P T N F S p.320
. | 10 . . . . g.31856
TTTAAAGGAGAAAACCAG | AATACAAAACTGAAGTTTGTTGCTGCTTCCTATGATATAAGA c.1020
F K G E N Q | N T K L K F V A A S Y D I R p.340
. . . . | 11 . . g.32566
GGAAATTTTCTCAAGTGGCAAACTTTAGAAGGAGGTGTTTTACAG | CTTTGTCCAGACACA c.1080
G N F L K W Q T L E G G V L Q | L C P D T p.360
. . . . . | 12 . g.35387
GAGACAAGGCTAAATGCTGCTTATTCATTTGGAACAACCTACCAACAAAAT | TGTGAGATT c.1140
E T R L N A A Y S F G T T Y Q Q N | C E I p.380
. . . . . . g.35447
CCTATCTCTAAGATCTTAATTGACTTTCCCACTCCTATATTTTATGATGTGTACCTTGAA c.1200
P I S K I L I D F P T P I F Y D V Y L E p.400
. . . . . . g.35507
TATACTGATGAAAATCAACATCAATATATTTTGGCTGTGCCTGTGTTAAACCTAAATCTT c.1260
Y T D E N Q H Q Y I L A V P V L N L N L p.420
. . | 13 . . . g.36411
CAACATAATAAGATATTTGTGAACCAAG | ACAGCAACTCTGGAAAGTGGCTTCTAACTCGG c.1320
Q H N K I F V N Q D | S N S G K W L L T R p.440
. . . . . . g.36471
CGCATTTTCTTAGTGGATGCAGTAAGTGGACGAGAAAATGACTTAGGAACTCAGCCAAGA c.1380
R I F L V D A V S G R E N D L G T Q P R p.460
. . . | 14 . . . g.38028
GTAATTCGAGTTGCTACTCAAATATCACTGAG | TGTCCACCTTGTACCCAACACAATAAAT c.1440
V I R V A T Q I S L S | V H L V P N T I N p.480
. . . . . . g.38088
GGAAACATCTACCCTCCCTTAATCACCATTGCCTACAGTGACATTGATATCAAAGATGCC c.1500
G N I Y P P L I T I A Y S D I D I K D A p.500
. | 15 . . . . g.41461
AACAGCCAGTCTGTGAAG | GTTTCTTTCTCAGTCACATATGAAATGGATCATGGAGAAGCA c.1560
N S Q S V K | V S F S V T Y E M D H G E A p.520
. | 16 . . . . . g.43399
CATGTCCAGACAGAT | ATTGCTTTGGGTGTATTGGGTGGGCTAGCTGTTTTAGCATCTCTT c.1620
H V Q T D | I A L G V L G G L A V L A S L p.540
. . . . . | 17 . g.45571
TTGAAGACAGCAGGATGGAAGAGGCGCATTGGGAGTCCCATGATTGATTTACAG | ACAGTT c.1680
L K T A G W K R R I G S P M I D L Q | T V p.560
. . . . . . g.45631
GTGAAATTCTTGGTGTACTATGCTGGTGATCTGGCCAATGTTTTCTTTATCATCACAGTG c.1740
V K F L V Y Y A G D L A N V F F I I T V p.580
. . . | 18 . . . g.46084
GGAACAGGTCTTTACTGGCTTATTTTCTTCAAA | GCACAGAAGTCTGTGTCTGTTTTGCTG c.1800
G T G L Y W L I F F K | A Q K S V S V L L p.600
. . . . . . g.46144
CCAATGCCAATTCAGGAAGAACGTTTTGTCACTTATGTTGGATGTGCCTTTGCTCTGAAG c.1860
P M P I Q E E R F V T Y V G C A F A L K p.620
| 19 . . . . . . g.47350
| GCACTACAATTTTTGCATAAGCTCATATCCCAGATTACAATAGATGTATTCTTTATTGAT c.1920
| A L Q F L H K L I S Q I T I D V F F I D p.640
. . . . | 20 . . g.47507
TGGGAGCGACCTAAAGGAAAGGTTCTTAAAGCTGTTGAAG | GTGAGGGTGGTGTACGAAGT c.1980
W E R P K G K V L K A V E G | E G G V R S p.660
. . . . . . g.47567
GCCACTGTTCCTGTAAGCATATGGAGAACATATTTTGTAGCAAATGAATGGAATGAAATT c.2040
A T V P V S I W R T Y F V A N E W N E I p.680
. . . . . . g.47627
CAGACTGTGAGAAAAATTAATTCACTCTTTCAAGTACTTACTGTCCTCTTCTTTTTGGAG c.2100
Q T V R K I N S L F Q V L T V L F F L E p.700
| 21 . . . . . . g.49834
| GTTGTGGGATTCAAGAACTTAGCATTAATGGACTCATCTTCTAGTCTTTCTAGAAACCCA c.2160
| V V G F K N L A L M D S S S S L S R N P p.720
. . . . . . g.49894
CCTAGCTACATAGCTCCTTATAGCTGCATTTTGAGATATGCAGTGTCTGCTGCTCTTTGG c.2220
P S Y I A P Y S C I L R Y A V S A A L W p.740
. . | 22 . . . . g.53799
CTAGCCATTGGAATTATACAG | GTCGTGTTCTTTGCTGTCTTTTATGAGAGATTTATAGAA c.2280
L A I G I I Q | V V F F A V F Y E R F I E p.760
. . . . | 23 . . g.54936
GATAAAATTCGACAGTTCGTTGATTTATGCTCTATGAGTAAT | ATATCAGTGTTTCTGTTA c.2340
D K I R Q F V D L C S M S N | I S V F L L p.780
. . . . . . g.54996
TCCCACAAATGTTTTGGATATTACATTCATGGTAGATCAGTACATGGGCATGCAGATACT c.2400
S H K C F G Y Y I H G R S V H G H A D T p.800
. . . | 24 . . g.59017
AATATGGAAGAAATGAATATGAACCTTAAAAGAGAAGCG | GAAAATTTGTGTAGCCAGAGA c.2460
N M E E M N M N L K R E A | E N L C S Q R p.820
. . . . . . g.59077
GGTTTGGTACCCAACACAGATGGTCAGACTTTTGAGATTGCAATTTCTAACCAGATGAGA c.2520
G L V P N T D G Q T F E I A I S N Q M R p.840
. . . | 25 . . . g.59237
CAACATTATGACAGAATTCATGAGACACTAATAAGG | AAAAATGGTCCTGCTAGACTACTG c.2580
Q H Y D R I H E T L I R | K N G P A R L L p.860
. . . . . . g.59297
AGTTCATCAGCAAGTACTTTTGAGCAGAGTATAAAAGCATATCATATGATGAATAAATTT c.2640
S S S A S T F E Q S I K A Y H M M N K F p.880
. . | 26 . . . . g.59980
CTTGGCTCCTTCATTGACCAT | GTTCATAAGGAAATGGATTACTTTATAAAAGATAAGTTG c.2700
L G S F I D H | V H K E M D Y F I K D K L p.900
. . . . . . g.60040
CTTCTTGAAAGAATTCTTGGAATGGAATTCATGGAACCAATGGAAAAAAGCATCTTTTAC c.2760
L L E R I L G M E F M E P M E K S I F Y p.920
| 27 . . . . . . g.65517
AATG | ATGAAGGTTATTCTTTCAGCAGTGTCCTGTATTATGGAAATGAAGCTACTCTTCTT c.2820
N D | E G Y S F S S V L Y Y G N E A T L L p.940
. . . . . . g.65577
ATTTTTGATCTGCTGTTCTTCTGTGTTGTGGATTTGGCTTGCCAAAATTTTATTTTAGCA c.2880
I F D L L F F C V V D L A C Q N F I L A p.960
. . | 28. . . . g.66561
TCCTTCCTTACATATCTACAACAAGAG | ATTTTTAGATATATCCGTAATACAGTAGGACAA c.2940
S F L T Y L Q Q E | I F R Y I R N T V G Q p.980
. . . . g.66609
AAGAATTTGGCATCCAAAACATTGGTGGATCAAAGATTTTTGATTTAA c.2988
K N L A S K T L V D Q R F L I X p.995
. . . . . . g.66669
cttcctgaataaataacttaaagactcagtataatcatggccaaaaaaaagtcatgatat c.*60
. . . . . . g.66729
caggttagtttgccatattttttaaaacttataatgcagactattctgtttttgtttttt c.*120
. . . . . . g.66789
atttgcagaaagatttatttttataacttgggaatatataacctgatataatagaaaata c.*180
. . . . . . g.66849
ctgttttcccattgtgtgtagtatttaatgcagtaaataataaattaatactgacagtga c.*240
. . . . . . g.66909
ggccaaaaaaaatctaaatgttgctttcagcataatactttttaatgctaattaaaacag c.*300
. . . . . . g.66969
tccccatcatttgtctctgtagattattttataaactgagagctgcctgaatcttctcac c.*360
. . . . . . g.67029
attgacaaagtaatttgattccaagtttaagactagttttcagtttgatattttcatgtt c.*420
. . . . . . g.67089
ttgtgtgcttatggttaaataaatgttgaaagatattttcaagtttacttagaaatttta c.*480
. . . . . . g.67149
aattgtattattgctgattcaatttgcatcattctaattgctcatcctctttggcagtgg c.*540
. . . . . . g.67209
attaattcactgttgggttaatatgcatctcatgaaatgatatcttttcattcctttgta c.*600
. . . . . . g.67269
tacctgtattaggtcagtatacgctttccatgaaatatatttgcatttctaatatagttt c.*660
. . . . . . g.67329
acatttattaagttataacgtatgacatttttcccaatatcattttttatacattttaat c.*720
. . . . . . g.67389
tacttaatgttttaagagttctcttccagagttttgcttttcaattacgtttaaagactg c.*780
. . . . . . g.67449
taaataacaaacagtaaggctgggcgctgtggcttacgcctgtaatcccagcactttgga c.*840
. . . . . . g.67509
aggccaaggcacgtggatcactttaggtcaggagttcaagaacagcctggccaacatgga c.*900
. . . . . . g.67569
aaaccccatctctacaaaaaatacaaaaattagttggatgtggtggcctgtaatcccagc c.*960
. . . . . . g.67629
tatttgggaggctgaggcatgagaatagcttgaaaccaggaggtggaggctgtagtgagc c.*1020
. . . . . . g.67689
cagatagcaccactgcactccagccaggatgacagagcaagaccctgtctcagaaaaaac c.*1080
. . . . . . g.67749
aaaaacaaaacactgtaaatgtatcatgtttctcactgctttctatgttaatgctgtgta c.*1140
. . . . . . g.67809
aatacttaaaatggaatactgtataaatattatttatattttctcagatgaaaatatata c.*1200
. . . . . . g.67869
ctaaaacatttggtatttctgttttctgtttcattaatgtatatctgatggagtaccatt c.*1260
. . . . . . g.67929
taggaatataacattattggggcagaggtcccagccattgccaaagttgaatcttttaca c.*1320
. . . . . . g.67989
tttccctgaatcttgaggatgactgaaaaggaagtctttgaaactgcagtttctgaagga c.*1380
. . . . . . g.68049
tcacagtacaggaatgcctttataaaagctgcagagataaatacatgtacttatatggca c.*1440
. . . . . . g.68109
tggatatttaaaaccactcactcagaagcatatgaaagaaattcaaccatcattcaacat c.*1500
. . . . . . g.68169
agaagaagttaattttagtgcaaaagtttttaagtattaaatttcacaataaaggatcaa c.*1560
. . . . . . g.68229
ttggcttacttgctgataaattaaaacagaaaacatttaaaatcattctaaattttgtat c.*1620
. . . . g.68276
gatatttttattttggctaggtgcataaaaatgtgttcagattttca c.*1667
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 12
©2004-2015 Leiden University Medical Center