Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35435 | 106528;106529;106530 | chr2:178530312;178530311;178530310 | chr2:179395039;179395038;179395037 |
| N2AB | 33794 | 101605;101606;101607 | chr2:178530312;178530311;178530310 | chr2:179395039;179395038;179395037 |
| N2A | 32867 | 98824;98825;98826 | chr2:178530312;178530311;178530310 | chr2:179395039;179395038;179395037 |
| N2B | 26370 | 79333;79334;79335 | chr2:178530312;178530311;178530310 | chr2:179395039;179395038;179395037 |
| Novex-1 | 26495 | 79708;79709;79710 | chr2:178530312;178530311;178530310 | chr2:179395039;179395038;179395037 |
| Novex-2 | 26562 | 79909;79910;79911 | chr2:178530312;178530311;178530310 | chr2:179395039;179395038;179395037 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs1159073681  |
-0.871 | None | N | 0.119 | 0.076 | 0.0401082797425 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| S/G | rs1159073681 |
-0.871 | None | N | 0.119 | 0.076 | 0.0401082797425 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| S/I | rs1423928961 |
None | 0.083 | N | 0.508 | 0.05 | 0.124217242631 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/I | rs1423928961 |
None | 0.083 | N | 0.508 | 0.05 | 0.124217242631 | gnomAD-4.0.0 | 6.56961E-06 | None | None | None | None | N | None | 2.41278E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | None | None | None | N | 0.203 | 0.041 | 0.0138822411134 | gnomAD-4.0.0 | 6.84215E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99478E-07 | 0 | 0 |
| S/R | rs1688529172 |
None | 0.153 | N | 0.449 | 0.091 | 0.0297737177859 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs1688529172 |
None | 0.153 | N | 0.449 | 0.091 | 0.0297737177859 | gnomAD-4.0.0 | 2.02978E-06 | None | None | None | None | N | None | 3.4943E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | rs1423928961 |
-0.317 | None | N | 0.119 | 0.032 | 0.0138822411134 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| S/T | rs1423928961 |
-0.317 | None | N | 0.119 | 0.032 | 0.0138822411134 | gnomAD-4.0.0 | 7.52637E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89426E-06 | 0 | 0 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0916 | likely_benign | 0.0908 | benign | -0.636 | Destabilizing | 0.014 | N | 0.323 | neutral | None | None | None | None | N |
| S/C | 0.1633 | likely_benign | 0.1705 | benign | -0.388 | Destabilizing | 0.58 | D | 0.394 | neutral | N | 0.473938181 | None | None | N |
| S/D | 0.2239 | likely_benign | 0.2314 | benign | -0.191 | Destabilizing | 0.033 | N | 0.365 | neutral | None | None | None | None | N |
| S/E | 0.3672 | ambiguous | 0.3739 | ambiguous | -0.275 | Destabilizing | 0.033 | N | 0.357 | neutral | None | None | None | None | N |
| S/F | 0.2361 | likely_benign | 0.2432 | benign | -1.251 | Destabilizing | 0.107 | N | 0.51 | neutral | None | None | None | None | N |
| S/G | 0.0814 | likely_benign | 0.0793 | benign | -0.749 | Destabilizing | None | N | 0.119 | neutral | N | 0.444087326 | None | None | N |
| S/H | 0.2688 | likely_benign | 0.2812 | benign | -1.348 | Destabilizing | 0.193 | N | 0.413 | neutral | None | None | None | None | N |
| S/I | 0.1569 | likely_benign | 0.1671 | benign | -0.456 | Destabilizing | 0.083 | N | 0.508 | neutral | N | 0.467354816 | None | None | N |
| S/K | 0.4315 | ambiguous | 0.4423 | ambiguous | -0.516 | Destabilizing | 0.033 | N | 0.351 | neutral | None | None | None | None | N |
| S/L | 0.1265 | likely_benign | 0.1289 | benign | -0.456 | Destabilizing | 0.033 | N | 0.468 | neutral | None | None | None | None | N |
| S/M | 0.2159 | likely_benign | 0.2236 | benign | 0.039 | Stabilizing | 0.326 | N | 0.402 | neutral | None | None | None | None | N |
| S/N | 0.1078 | likely_benign | 0.1097 | benign | -0.3 | Destabilizing | None | N | 0.203 | neutral | N | 0.470196491 | None | None | N |
| S/P | 0.5432 | ambiguous | 0.6063 | pathogenic | -0.489 | Destabilizing | 0.326 | N | 0.439 | neutral | None | None | None | None | N |
| S/Q | 0.3945 | ambiguous | 0.4055 | ambiguous | -0.651 | Destabilizing | 0.193 | N | 0.401 | neutral | None | None | None | None | N |
| S/R | 0.3501 | ambiguous | 0.3621 | ambiguous | -0.289 | Destabilizing | 0.153 | N | 0.449 | neutral | N | 0.478527973 | None | None | N |
| S/T | 0.082 | likely_benign | 0.0844 | benign | -0.417 | Destabilizing | None | N | 0.119 | neutral | N | 0.454112318 | None | None | N |
| S/V | 0.1849 | likely_benign | 0.1941 | benign | -0.489 | Destabilizing | 0.033 | N | 0.499 | neutral | None | None | None | None | N |
| S/W | 0.3698 | ambiguous | 0.4013 | ambiguous | -1.186 | Destabilizing | 0.646 | D | 0.486 | neutral | None | None | None | None | N |
| S/Y | 0.186 | likely_benign | 0.1961 | benign | -0.921 | Destabilizing | None | N | 0.312 | 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.