Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25574 | 76945;76946;76947 | chr2:178569412;178569411;178569410 | chr2:179434139;179434138;179434137 |
| N2AB | 23933 | 72022;72023;72024 | chr2:178569412;178569411;178569410 | chr2:179434139;179434138;179434137 |
| N2A | 23006 | 69241;69242;69243 | chr2:178569412;178569411;178569410 | chr2:179434139;179434138;179434137 |
| N2B | 16509 | 49750;49751;49752 | chr2:178569412;178569411;178569410 | chr2:179434139;179434138;179434137 |
| Novex-1 | 16634 | 50125;50126;50127 | chr2:178569412;178569411;178569410 | chr2:179434139;179434138;179434137 |
| Novex-2 | 16701 | 50326;50327;50328 | chr2:178569412;178569411;178569410 | chr2:179434139;179434138;179434137 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/F | rs1199417769  |
None | 0.003 | N | 0.199 | 0.11 | 0.158396225186 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Y/F | rs1199417769 |
None | 0.003 | N | 0.199 | 0.11 | 0.158396225186 | gnomAD-4.0.0 | 6.57549E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47067E-05 | 0 | 0 |
| Y/H | rs3813245 |
0.745 | 0.939 | N | 0.425 | 0.189 | None | gnomAD-2.1.1 | 2.57529E-02 | None | None | None | None | N | None | 4.88047E-03 | 3.35432E-02 | None | 1.47401E-02 | 6.14306E-02 | None | 6.15546E-03 | None | 4.79353E-02 | 2.33229E-02 | 2.64863E-02 |
| Y/H | rs3813245 |
0.745 | 0.939 | N | 0.425 | 0.189 | None | gnomAD-3.1.2 | 2.02286E-02 | None | None | None | None | N | None | 4.51298E-03 | 2.18361E-02 | 3.07018E-02 | 1.90202E-02 | 6.11455E-02 | None | 4.4434E-02 | 6.32911E-03 | 2.3418E-02 | 8.2713E-03 | 1.95985E-02 |
| Y/H | rs3813245 |
0.745 | 0.939 | N | 0.425 | 0.189 | None | 1000 genomes | 2.23642E-02 | None | None | None | None | N | None | 8E-04 | 2.45E-02 | None | None | 6.05E-02 | 2.68E-02 | None | None | None | 6.1E-03 | None |
| Y/H | rs3813245 |
0.745 | 0.939 | N | 0.425 | 0.189 | None | gnomAD-4.0.0 | 2.29074E-02 | None | None | None | None | N | None | 4.30655E-03 | 2.93676E-02 | None | 1.49087E-02 | 6.32315E-02 | None | 4.76652E-02 | 9.74884E-03 | 2.24515E-02 | 6.86617E-03 | 2.17099E-02 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.4056 | ambiguous | 0.3533 | ambiguous | -0.562 | Destabilizing | 0.742 | D | 0.45 | neutral | None | None | None | None | N |
| Y/C | 0.1471 | likely_benign | 0.1431 | benign | 0.103 | Stabilizing | 0.994 | D | 0.395 | neutral | N | 0.465019958 | None | None | N |
| Y/D | 0.1592 | likely_benign | 0.1567 | benign | 0.983 | Stabilizing | 0.792 | D | 0.381 | neutral | N | 0.358177708 | None | None | N |
| Y/E | 0.4527 | ambiguous | 0.4411 | ambiguous | 0.962 | Stabilizing | 0.91 | D | 0.397 | neutral | None | None | None | None | N |
| Y/F | 0.0798 | likely_benign | 0.0796 | benign | -0.312 | Destabilizing | 0.003 | N | 0.199 | neutral | N | 0.365453184 | None | None | N |
| Y/G | 0.3572 | ambiguous | 0.3157 | benign | -0.738 | Destabilizing | 0.59 | D | 0.443 | neutral | None | None | None | None | N |
| Y/H | 0.1456 | likely_benign | 0.1496 | benign | 0.217 | Stabilizing | 0.939 | D | 0.425 | neutral | N | 0.464499883 | None | None | N |
| Y/I | 0.4604 | ambiguous | 0.4193 | ambiguous | -0.127 | Destabilizing | 0.59 | D | 0.436 | neutral | None | None | None | None | N |
| Y/K | 0.5001 | ambiguous | 0.5131 | ambiguous | 0.245 | Stabilizing | 0.91 | D | 0.39 | neutral | None | None | None | None | N |
| Y/L | 0.4293 | ambiguous | 0.3911 | ambiguous | -0.127 | Destabilizing | 0.373 | N | 0.413 | neutral | None | None | None | None | N |
| Y/M | 0.4913 | ambiguous | 0.4587 | ambiguous | -0.025 | Destabilizing | 0.953 | D | 0.401 | neutral | None | None | None | None | N |
| Y/N | 0.0861 | likely_benign | 0.0822 | benign | 0.055 | Stabilizing | 0.007 | N | 0.31 | neutral | N | 0.377456902 | None | None | N |
| Y/P | 0.8978 | likely_pathogenic | 0.8863 | pathogenic | -0.252 | Destabilizing | 0.984 | D | 0.392 | neutral | None | None | None | None | N |
| Y/Q | 0.3776 | ambiguous | 0.3779 | ambiguous | 0.121 | Stabilizing | 0.91 | D | 0.394 | neutral | None | None | None | None | N |
| Y/R | 0.3772 | ambiguous | 0.4057 | ambiguous | 0.448 | Stabilizing | 0.91 | D | 0.411 | neutral | None | None | None | None | N |
| Y/S | 0.1664 | likely_benign | 0.1404 | benign | -0.374 | Destabilizing | 0.521 | D | 0.458 | neutral | N | 0.34314954 | None | None | N |
| Y/T | 0.3375 | likely_benign | 0.2937 | benign | -0.301 | Destabilizing | 0.742 | D | 0.431 | neutral | None | None | None | None | N |
| Y/V | 0.3777 | ambiguous | 0.3355 | benign | -0.252 | Destabilizing | 0.742 | D | 0.427 | neutral | None | None | None | None | N |
| Y/W | 0.4116 | ambiguous | 0.4215 | ambiguous | -0.485 | Destabilizing | 0.984 | D | 0.424 | neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.