Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20126 | 60601;60602;60603 | chr2:178591349;178591348;178591347 | chr2:179456076;179456075;179456074 |
| N2AB | 18485 | 55678;55679;55680 | chr2:178591349;178591348;178591347 | chr2:179456076;179456075;179456074 |
| N2A | 17558 | 52897;52898;52899 | chr2:178591349;178591348;178591347 | chr2:179456076;179456075;179456074 |
| N2B | 11061 | 33406;33407;33408 | chr2:178591349;178591348;178591347 | chr2:179456076;179456075;179456074 |
| Novex-1 | 11186 | 33781;33782;33783 | chr2:178591349;178591348;178591347 | chr2:179456076;179456075;179456074 |
| Novex-2 | 11253 | 33982;33983;33984 | chr2:178591349;178591348;178591347 | chr2:179456076;179456075;179456074 |
| 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/I | rs772536475  |
-0.019 | 0.301 | N | 0.421 | 0.108 | 0.376393476264 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/I | rs772536475 |
-0.019 | 0.301 | N | 0.421 | 0.108 | 0.376393476264 | gnomAD-4.0.0 | 1.09497E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.34947E-05 | 1.15974E-05 | 0 |
| T/K | None | None | None | N | 0.146 | 0.197 | 0.298745278005 | gnomAD-4.0.0 | 2.05308E-06 | None | None | None | None | N | None | 8.97183E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/R | rs772536475 |
-0.387 | 0.042 | N | 0.368 | 0.192 | 0.376921832658 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| T/R | rs772536475 |
-0.387 | 0.042 | N | 0.368 | 0.192 | 0.376921832658 | gnomAD-4.0.0 | 6.84359E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51965E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0744 | likely_benign | 0.0705 | benign | -0.918 | Destabilizing | 0.001 | N | 0.118 | neutral | N | 0.513105559 | None | None | N |
| T/C | 0.2869 | likely_benign | 0.2509 | benign | -0.825 | Destabilizing | 0.859 | D | 0.377 | neutral | None | None | None | None | N |
| T/D | 0.3007 | likely_benign | 0.2768 | benign | -1.097 | Destabilizing | 0.055 | N | 0.383 | neutral | None | None | None | None | N |
| T/E | 0.2103 | likely_benign | 0.2098 | benign | -1.044 | Destabilizing | 0.055 | N | 0.35 | neutral | None | None | None | None | N |
| T/F | 0.1833 | likely_benign | 0.1737 | benign | -0.977 | Destabilizing | 0.497 | N | 0.457 | neutral | None | None | None | None | N |
| T/G | 0.2329 | likely_benign | 0.2103 | benign | -1.209 | Destabilizing | 0.055 | N | 0.352 | neutral | None | None | None | None | N |
| T/H | 0.1454 | likely_benign | 0.1358 | benign | -1.525 | Destabilizing | 0.001 | N | 0.309 | neutral | None | None | None | None | N |
| T/I | 0.1022 | likely_benign | 0.0924 | benign | -0.219 | Destabilizing | 0.301 | N | 0.421 | neutral | N | 0.493405078 | None | None | N |
| T/K | 0.1159 | likely_benign | 0.1137 | benign | -0.795 | Destabilizing | None | N | 0.146 | neutral | N | 0.428774809 | None | None | N |
| T/L | 0.0816 | likely_benign | 0.076 | benign | -0.219 | Destabilizing | 0.104 | N | 0.363 | neutral | None | None | None | None | N |
| T/M | 0.0777 | likely_benign | 0.0739 | benign | 0.07 | Stabilizing | 0.859 | D | 0.392 | neutral | None | None | None | None | N |
| T/N | 0.1066 | likely_benign | 0.0958 | benign | -1.037 | Destabilizing | None | N | 0.114 | neutral | None | None | None | None | N |
| T/P | 0.5371 | ambiguous | 0.5126 | ambiguous | -0.421 | Destabilizing | 0.301 | N | 0.366 | neutral | N | 0.498810289 | None | None | N |
| T/Q | 0.1511 | likely_benign | 0.1471 | benign | -1.191 | Destabilizing | 0.124 | N | 0.365 | neutral | None | None | None | None | N |
| T/R | 0.1069 | likely_benign | 0.1059 | benign | -0.614 | Destabilizing | 0.042 | N | 0.368 | neutral | N | 0.472643017 | None | None | N |
| T/S | 0.0902 | likely_benign | 0.0835 | benign | -1.238 | Destabilizing | 0.019 | N | 0.237 | neutral | N | 0.47183494 | None | None | N |
| T/V | 0.0916 | likely_benign | 0.086 | benign | -0.421 | Destabilizing | 0.104 | N | 0.241 | neutral | None | None | None | None | N |
| T/W | 0.4969 | ambiguous | 0.4656 | ambiguous | -0.965 | Destabilizing | 0.958 | D | 0.424 | neutral | None | None | None | None | N |
| T/Y | 0.2243 | likely_benign | 0.2049 | benign | -0.663 | Destabilizing | 0.331 | N | 0.491 | 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.