Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8594 | 26005;26006;26007 | chr2:178715634;178715633;178715632 | chr2:179580361;179580360;179580359 |
| N2AB | 8277 | 25054;25055;25056 | chr2:178715634;178715633;178715632 | chr2:179580361;179580360;179580359 |
| N2A | 7350 | 22273;22274;22275 | chr2:178715634;178715633;178715632 | chr2:179580361;179580360;179580359 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | None | None | None | N | 0.137 | 0.156 | 0.0551355673512 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| S/N | rs759108676  |
-0.025 | None | N | 0.16 | 0.051 | 0.0297737177859 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| S/N | rs759108676 |
-0.025 | None | N | 0.16 | 0.051 | 0.0297737177859 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/R | None | None | 0.138 | N | 0.309 | 0.149 | 0.0884992946249 | gnomAD-4.0.0 | 6.84299E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99565E-07 | 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 | 0.0737 | likely_benign | 0.0719 | benign | -0.264 | Destabilizing | None | N | 0.124 | neutral | None | None | None | None | N |
| S/C | 0.1415 | likely_benign | 0.1437 | benign | -0.183 | Destabilizing | 0.482 | N | 0.283 | neutral | N | 0.488586169 | None | None | N |
| S/D | 0.1092 | likely_benign | 0.1104 | benign | 0.018 | Stabilizing | None | N | 0.165 | neutral | None | None | None | None | N |
| S/E | 0.142 | likely_benign | 0.1383 | benign | -0.07 | Destabilizing | None | N | 0.122 | neutral | None | None | None | None | N |
| S/F | 0.1814 | likely_benign | 0.1796 | benign | -0.787 | Destabilizing | 0.602 | D | 0.387 | neutral | None | None | None | None | N |
| S/G | 0.0639 | likely_benign | 0.0657 | benign | -0.39 | Destabilizing | None | N | 0.137 | neutral | N | 0.44000687 | None | None | N |
| S/H | 0.1455 | likely_benign | 0.1436 | benign | -0.806 | Destabilizing | 0.427 | N | 0.279 | neutral | None | None | None | None | N |
| S/I | 0.1297 | likely_benign | 0.1298 | benign | -0.063 | Destabilizing | 0.074 | N | 0.345 | neutral | N | 0.461834634 | None | None | N |
| S/K | 0.1773 | likely_benign | 0.1722 | benign | -0.516 | Destabilizing | 0.042 | N | 0.224 | neutral | None | None | None | None | N |
| S/L | 0.0965 | likely_benign | 0.0933 | benign | -0.063 | Destabilizing | 0.042 | N | 0.29 | neutral | None | None | None | None | N |
| S/M | 0.1707 | likely_benign | 0.1645 | benign | 0.094 | Stabilizing | 0.602 | D | 0.277 | neutral | None | None | None | None | N |
| S/N | 0.0682 | likely_benign | 0.0694 | benign | -0.166 | Destabilizing | None | N | 0.16 | neutral | N | 0.461038291 | None | None | N |
| S/P | 0.0725 | likely_benign | 0.0713 | benign | -0.1 | Destabilizing | 0.103 | N | 0.312 | neutral | None | None | None | None | N |
| S/Q | 0.177 | likely_benign | 0.1705 | benign | -0.408 | Destabilizing | 0.096 | N | 0.201 | neutral | None | None | None | None | N |
| S/R | 0.1584 | likely_benign | 0.1589 | benign | -0.251 | Destabilizing | 0.138 | N | 0.309 | neutral | N | 0.468484338 | None | None | N |
| S/T | 0.0772 | likely_benign | 0.0763 | benign | -0.256 | Destabilizing | 0.001 | N | 0.219 | neutral | N | 0.487955533 | None | None | N |
| S/V | 0.1373 | likely_benign | 0.1343 | benign | -0.1 | Destabilizing | 0.001 | N | 0.235 | neutral | None | None | None | None | N |
| S/W | 0.2 | likely_benign | 0.202 | benign | -0.829 | Destabilizing | 0.946 | D | 0.339 | neutral | None | None | None | None | N |
| S/Y | 0.1313 | likely_benign | 0.1302 | benign | -0.549 | Destabilizing | 0.822 | D | 0.381 | 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.