Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35927 | 108004;108005;108006 | chr2:178527209;178527208;178527207 | chr2:179391936;179391935;179391934 |
| N2AB | 34286 | 103081;103082;103083 | chr2:178527209;178527208;178527207 | chr2:179391936;179391935;179391934 |
| N2A | 33359 | 100300;100301;100302 | chr2:178527209;178527208;178527207 | chr2:179391936;179391935;179391934 |
| N2B | 26862 | 80809;80810;80811 | chr2:178527209;178527208;178527207 | chr2:179391936;179391935;179391934 |
| Novex-1 | 26987 | 81184;81185;81186 | chr2:178527209;178527208;178527207 | chr2:179391936;179391935;179391934 |
| Novex-2 | 27054 | 81385;81386;81387 | chr2:178527209;178527208;178527207 | chr2:179391936;179391935;179391934 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | rs1558954742  |
-0.175 | 0.081 | N | 0.408 | 0.198 | 0.325533332567 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | -1.683(OBSL1) -0.185(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| E/A | rs1558954742 |
-0.175 | 0.081 | N | 0.408 | 0.198 | 0.325533332567 | gnomAD-4.0.0 | 2.73663E-06 | None | None | None | -1.683(OBSL1) -0.185(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59763E-06 | 0 | 0 |
| E/K | rs751773148 |
0.703 | 0.042 | N | 0.388 | 0.244 | 0.243972157842 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | -1.925(OBSL1) 0.135(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| E/K | rs751773148 |
0.703 | 0.042 | N | 0.388 | 0.244 | 0.243972157842 | gnomAD-4.0.0 | 3.42087E-06 | None | None | None | -1.925(OBSL1) 0.135(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.79831E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.1494 | likely_benign | 0.1562 | benign | -0.303 | Destabilizing | 0.081 | N | 0.408 | neutral | N | 0.468760136 | None | -1.683(OBSL1) -0.185(OBSCN) | N |
| E/C | 0.8698 | likely_pathogenic | 0.8752 | pathogenic | -0.04 | Destabilizing | 0.958 | D | 0.421 | neutral | None | None | None | -1.872(OBSL1) -0.185(OBSCN) | N |
| E/D | 0.1305 | likely_benign | 0.1356 | benign | -0.352 | Destabilizing | None | N | 0.16 | neutral | N | 0.486825822 | None | -1.354(OBSL1) -0.145(OBSCN) | N |
| E/F | 0.7648 | likely_pathogenic | 0.7669 | pathogenic | -0.179 | Destabilizing | 0.497 | N | 0.441 | neutral | None | None | None | -1.412(OBSL1) 0.11(OBSCN) | N |
| E/G | 0.2302 | likely_benign | 0.2343 | benign | -0.493 | Destabilizing | 0.175 | N | 0.469 | neutral | D | 0.531579464 | None | -1.743(OBSL1) -0.366(OBSCN) | N |
| E/H | 0.4244 | ambiguous | 0.4286 | ambiguous | 0.096 | Stabilizing | 0.002 | N | 0.245 | neutral | None | None | None | -0.97(OBSL1) 0.624(OBSCN) | N |
| E/I | 0.3563 | ambiguous | 0.3654 | ambiguous | 0.16 | Stabilizing | 0.331 | N | 0.507 | neutral | None | None | None | -1.515(OBSL1) 0.343(OBSCN) | N |
| E/K | 0.1186 | likely_benign | 0.1176 | benign | 0.415 | Stabilizing | 0.042 | N | 0.388 | neutral | N | 0.47149101 | None | -1.925(OBSL1) 0.135(OBSCN) | N |
| E/L | 0.3928 | ambiguous | 0.4086 | ambiguous | 0.16 | Stabilizing | 0.001 | N | 0.334 | neutral | None | None | None | -1.515(OBSL1) 0.343(OBSCN) | N |
| E/M | 0.4425 | ambiguous | 0.4673 | ambiguous | 0.187 | Stabilizing | 0.497 | N | 0.443 | neutral | None | None | None | -1.08(OBSL1) 0.865(OBSCN) | N |
| E/N | 0.2249 | likely_benign | 0.238 | benign | 0.037 | Stabilizing | 0.124 | N | 0.353 | neutral | None | None | None | -1.708(OBSL1) -1.44(OBSCN) | N |
| E/P | 0.7947 | likely_pathogenic | 0.7768 | pathogenic | 0.026 | Stabilizing | 0.667 | D | 0.524 | neutral | None | None | None | -1.568(OBSL1) 0.172(OBSCN) | N |
| E/Q | 0.1341 | likely_benign | 0.1414 | benign | 0.08 | Stabilizing | 0.003 | N | 0.163 | neutral | N | 0.469240139 | None | -1.741(OBSL1) -0.814(OBSCN) | N |
| E/R | 0.2087 | likely_benign | 0.2041 | benign | 0.605 | Stabilizing | 0.001 | N | 0.165 | neutral | None | None | None | -1.631(OBSL1) -0.021(OBSCN) | N |
| E/S | 0.1813 | likely_benign | 0.1921 | benign | -0.091 | Destabilizing | 0.055 | N | 0.356 | neutral | None | None | None | -2.08(OBSL1) -1.171(OBSCN) | N |
| E/T | 0.1927 | likely_benign | 0.2085 | benign | 0.069 | Stabilizing | 0.22 | N | 0.455 | neutral | None | None | None | -2.052(OBSL1) -0.973(OBSCN) | N |
| E/V | 0.2015 | likely_benign | 0.208 | benign | 0.026 | Stabilizing | 0.096 | N | 0.481 | neutral | N | 0.449174298 | None | -1.568(OBSL1) 0.172(OBSCN) | N |
| E/W | 0.894 | likely_pathogenic | 0.8944 | pathogenic | -0.035 | Destabilizing | 0.958 | D | 0.431 | neutral | None | None | None | -1.307(OBSL1) -0.032(OBSCN) | N |
| E/Y | 0.6486 | likely_pathogenic | 0.649 | pathogenic | 0.067 | Stabilizing | 0.497 | N | 0.465 | neutral | None | None | None | -1.304(OBSL1) 0.057(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.