Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35929 | 108010;108011;108012 | chr2:178527203;178527202;178527201 | chr2:179391930;179391929;179391928 |
| N2AB | 34288 | 103087;103088;103089 | chr2:178527203;178527202;178527201 | chr2:179391930;179391929;179391928 |
| N2A | 33361 | 100306;100307;100308 | chr2:178527203;178527202;178527201 | chr2:179391930;179391929;179391928 |
| N2B | 26864 | 80815;80816;80817 | chr2:178527203;178527202;178527201 | chr2:179391930;179391929;179391928 |
| Novex-1 | 26989 | 81190;81191;81192 | chr2:178527203;178527202;178527201 | chr2:179391930;179391929;179391928 |
| Novex-2 | 27056 | 81391;81392;81393 | chr2:178527203;178527202;178527201 | chr2:179391930;179391929;179391928 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/K | rs751035844  |
-0.576 | 0.042 | N | 0.537 | 0.265 | 0.378322506985 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | -1.679(OBSL1) -0.527(OBSCN) | N | None | 0 | 0 | 0 | 0 | 0 | None | 1.8843E-04 | 0 | 0 | 0 | 0 |
| T/K | rs751035844 |
-0.576 | 0.042 | N | 0.537 | 0.265 | 0.378322506985 | gnomAD-4.0.0 | 3.71452E-05 | None | None | None | -1.679(OBSL1) -0.527(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 4.0792E-04 | 0 | 2.39252E-06 | 0 | 5.68796E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1025 | likely_benign | 0.1049 | benign | -1.061 | Destabilizing | None | N | 0.215 | neutral | D | 0.533982264 | None | -0.826(OBSL1) -0.08(OBSCN) | N |
| T/C | 0.4282 | ambiguous | 0.4327 | ambiguous | -0.685 | Destabilizing | 0.883 | D | 0.551 | neutral | None | None | None | -0.952(OBSL1) -0.364(OBSCN) | N |
| T/D | 0.3579 | ambiguous | 0.365 | ambiguous | -0.475 | Destabilizing | 0.124 | N | 0.548 | neutral | None | None | None | -0.056(OBSL1) -0.23(OBSCN) | N |
| T/E | 0.2519 | likely_benign | 0.2522 | benign | -0.416 | Destabilizing | 0.004 | N | 0.309 | neutral | None | None | None | -0.2(OBSL1) -0.334(OBSCN) | N |
| T/F | 0.1696 | likely_benign | 0.1648 | benign | -0.957 | Destabilizing | 0.497 | N | 0.575 | neutral | None | None | None | -1.21(OBSL1) -0.218(OBSCN) | N |
| T/G | 0.3422 | ambiguous | 0.346 | ambiguous | -1.381 | Destabilizing | 0.055 | N | 0.542 | neutral | None | None | None | -0.723(OBSL1) -0.05(OBSCN) | N |
| T/H | 0.2233 | likely_benign | 0.2253 | benign | -1.595 | Destabilizing | 0.667 | D | 0.577 | neutral | None | None | None | -0.582(OBSL1) 0.595(OBSCN) | N |
| T/I | 0.0899 | likely_benign | 0.0877 | benign | -0.276 | Destabilizing | 0.001 | N | 0.402 | neutral | D | 0.522439906 | None | -1.187(OBSL1) -0.216(OBSCN) | N |
| T/K | 0.1965 | likely_benign | 0.1889 | benign | -0.785 | Destabilizing | 0.042 | N | 0.537 | neutral | N | 0.501408486 | None | -1.679(OBSL1) -0.527(OBSCN) | N |
| T/L | 0.0918 | likely_benign | 0.0887 | benign | -0.276 | Destabilizing | 0.02 | N | 0.511 | neutral | None | None | None | -1.187(OBSL1) -0.216(OBSCN) | N |
| T/M | 0.0885 | likely_benign | 0.0901 | benign | -0.035 | Destabilizing | 0.497 | N | 0.557 | neutral | None | None | None | -0.873(OBSL1) 0.109(OBSCN) | N |
| T/N | 0.1264 | likely_benign | 0.1298 | benign | -0.903 | Destabilizing | 0.124 | N | 0.489 | neutral | None | None | None | -1.024(OBSL1) -0.674(OBSCN) | N |
| T/P | 0.5012 | ambiguous | 0.5028 | ambiguous | -0.505 | Destabilizing | 0.301 | N | 0.567 | neutral | D | 0.530703612 | None | -1.06(OBSL1) -0.163(OBSCN) | N |
| T/Q | 0.2087 | likely_benign | 0.2074 | benign | -0.969 | Destabilizing | 0.011 | N | 0.297 | neutral | None | None | None | -1.048(OBSL1) -0.592(OBSCN) | N |
| T/R | 0.1428 | likely_benign | 0.1392 | benign | -0.66 | Destabilizing | 0.175 | N | 0.553 | neutral | N | 0.51331899 | None | -1.784(OBSL1) -0.413(OBSCN) | N |
| T/S | 0.116 | likely_benign | 0.1205 | benign | -1.217 | Destabilizing | 0.003 | N | 0.248 | neutral | N | 0.495767805 | None | -1.18(OBSL1) -0.502(OBSCN) | N |
| T/V | 0.1042 | likely_benign | 0.0987 | benign | -0.505 | Destabilizing | 0.02 | N | 0.477 | neutral | None | None | None | -1.06(OBSL1) -0.163(OBSCN) | N |
| T/W | 0.5209 | ambiguous | 0.5255 | ambiguous | -0.892 | Destabilizing | 0.958 | D | 0.608 | neutral | None | None | None | -1.316(OBSL1) -0.238(OBSCN) | N |
| T/Y | 0.2578 | likely_benign | 0.2536 | benign | -0.649 | Destabilizing | 0.667 | D | 0.573 | neutral | None | None | None | -1.12(OBSL1) -0.036(OBSCN) | 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.