Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2091 | 6496;6497;6498 | chr2:178775593;178775592;178775591 | chr2:179640320;179640319;179640318 |
| N2AB | 2091 | 6496;6497;6498 | chr2:178775593;178775592;178775591 | chr2:179640320;179640319;179640318 |
| N2A | 2091 | 6496;6497;6498 | chr2:178775593;178775592;178775591 | chr2:179640320;179640319;179640318 |
| N2B | 2045 | 6358;6359;6360 | chr2:178775593;178775592;178775591 | chr2:179640320;179640319;179640318 |
| Novex-1 | 2045 | 6358;6359;6360 | chr2:178775593;178775592;178775591 | chr2:179640320;179640319;179640318 |
| Novex-2 | 2045 | 6358;6359;6360 | chr2:178775593;178775592;178775591 | chr2:179640320;179640319;179640318 |
| Novex-3 | 2091 | 6496;6497;6498 | chr2:178775593;178775592;178775591 | chr2:179640320;179640319;179640318 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | rs879012357  |
0.147 | 0.055 | N | 0.32 | 0.072 | None | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1598 | likely_benign | 0.1402 | benign | -0.319 | Destabilizing | 0.031 | N | 0.353 | neutral | None | None | None | None | N |
| Q/C | 0.5297 | ambiguous | 0.4967 | ambiguous | 0.255 | Stabilizing | 0.864 | D | 0.313 | neutral | None | None | None | None | N |
| Q/D | 0.4319 | ambiguous | 0.3692 | ambiguous | 0.091 | Stabilizing | 0.072 | N | 0.289 | neutral | None | None | None | None | N |
| Q/E | 0.0777 | likely_benign | 0.0757 | benign | 0.061 | Stabilizing | 0.024 | N | 0.358 | neutral | N | 0.342614949 | None | None | N |
| Q/F | 0.4846 | ambiguous | 0.4099 | ambiguous | -0.565 | Destabilizing | 0.12 | N | 0.38 | neutral | None | None | None | None | N |
| Q/G | 0.3412 | ambiguous | 0.279 | benign | -0.501 | Destabilizing | 0.072 | N | 0.412 | neutral | None | None | None | None | N |
| Q/H | 0.172 | likely_benign | 0.1585 | benign | -0.535 | Destabilizing | None | N | 0.238 | neutral | N | 0.511660135 | None | None | N |
| Q/I | 0.2033 | likely_benign | 0.1717 | benign | 0.072 | Stabilizing | 0.038 | N | 0.429 | neutral | None | None | None | None | N |
| Q/K | 0.0988 | likely_benign | 0.0891 | benign | 0.195 | Stabilizing | 0.024 | N | 0.345 | neutral | N | 0.437404721 | None | None | N |
| Q/L | 0.0796 | likely_benign | 0.0716 | benign | 0.072 | Stabilizing | None | N | 0.099 | neutral | N | 0.442253551 | None | None | N |
| Q/M | 0.2321 | likely_benign | 0.2054 | benign | 0.505 | Stabilizing | 0.12 | N | 0.26 | neutral | None | None | None | None | N |
| Q/N | 0.2607 | likely_benign | 0.223 | benign | -0.127 | Destabilizing | 0.038 | N | 0.275 | neutral | None | None | None | None | N |
| Q/P | 0.1371 | likely_benign | 0.1124 | benign | -0.031 | Destabilizing | None | N | 0.075 | neutral | N | 0.448261878 | None | None | N |
| Q/R | 0.1224 | likely_benign | 0.1106 | benign | 0.292 | Stabilizing | 0.055 | N | 0.32 | neutral | N | 0.475980209 | None | None | N |
| Q/S | 0.2302 | likely_benign | 0.1961 | benign | -0.163 | Destabilizing | 0.031 | N | 0.305 | neutral | None | None | None | None | N |
| Q/T | 0.1915 | likely_benign | 0.1636 | benign | -0.034 | Destabilizing | 0.072 | N | 0.403 | neutral | None | None | None | None | N |
| Q/V | 0.1417 | likely_benign | 0.1278 | benign | -0.031 | Destabilizing | 0.016 | N | 0.395 | neutral | None | None | None | None | N |
| Q/W | 0.5432 | ambiguous | 0.4833 | ambiguous | -0.502 | Destabilizing | 0.864 | D | 0.328 | neutral | None | None | None | None | N |
| Q/Y | 0.354 | ambiguous | 0.3114 | benign | -0.243 | Destabilizing | 0.12 | N | 0.415 | 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.