Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6862 | 20809;20810;20811 | chr2:178725620;178725619;178725618 | chr2:179590347;179590346;179590345 |
| N2AB | 6545 | 19858;19859;19860 | chr2:178725620;178725619;178725618 | chr2:179590347;179590346;179590345 |
| N2A | 5618 | 17077;17078;17079 | chr2:178725620;178725619;178725618 | chr2:179590347;179590346;179590345 |
| 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 | rs772654281  |
-0.332 | 0.201 | N | 0.291 | 0.13 | 0.143124449307 | gnomAD-2.1.1 | 4.74E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 4.13099E-04 | None | 0 | 0 | 0 |
| S/G | rs772654281 |
-0.332 | 0.201 | N | 0.291 | 0.13 | 0.143124449307 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| S/G | rs772654281 |
-0.332 | 0.201 | N | 0.291 | 0.13 | 0.143124449307 | gnomAD-4.0.0 | 1.69431E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.96695E-04 | 1.62454E-05 |
| S/N | rs764794977 |
0.131 | 0.001 | N | 0.123 | 0.054 | 0.0920862733494 | gnomAD-2.1.1 | 4.26E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.67E-05 | None | 0 | None | 0 | 0 | 0 |
| S/N | rs764794977 |
0.131 | 0.001 | N | 0.123 | 0.054 | 0.0920862733494 | gnomAD-4.0.0 | 1.3851E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.06714E-05 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | rs764794977 |
0.054 | 0.334 | N | 0.269 | 0.079 | 0.126345400529 | gnomAD-2.1.1 | 4.26E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.67E-05 | None | 0 | None | 0 | 0 | 0 |
| S/T | rs764794977 |
0.054 | 0.334 | N | 0.269 | 0.079 | 0.126345400529 | gnomAD-4.0.0 | 6.9255E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.53357E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1206 | likely_benign | 0.1051 | benign | -0.248 | Destabilizing | 0.4 | N | 0.321 | neutral | None | None | None | None | I |
| S/C | 0.2264 | likely_benign | 0.2131 | benign | -0.255 | Destabilizing | 0.99 | D | 0.371 | neutral | N | 0.457822162 | None | None | I |
| S/D | 0.2433 | likely_benign | 0.2789 | benign | 0.32 | Stabilizing | 0.005 | N | 0.157 | neutral | None | None | None | None | I |
| S/E | 0.5774 | likely_pathogenic | 0.5946 | pathogenic | 0.226 | Stabilizing | 0.25 | N | 0.231 | neutral | None | None | None | None | I |
| S/F | 0.3562 | ambiguous | 0.3097 | benign | -0.908 | Destabilizing | 0.972 | D | 0.405 | neutral | None | None | None | None | I |
| S/G | 0.0951 | likely_benign | 0.0911 | benign | -0.342 | Destabilizing | 0.201 | N | 0.291 | neutral | N | 0.496575016 | None | None | I |
| S/H | 0.3865 | ambiguous | 0.3801 | ambiguous | -0.832 | Destabilizing | 0.85 | D | 0.332 | neutral | None | None | None | None | I |
| S/I | 0.2685 | likely_benign | 0.2508 | benign | -0.135 | Destabilizing | 0.896 | D | 0.417 | neutral | N | 0.468417999 | None | None | I |
| S/K | 0.7407 | likely_pathogenic | 0.7596 | pathogenic | -0.305 | Destabilizing | 0.447 | N | 0.221 | neutral | None | None | None | None | I |
| S/L | 0.1816 | likely_benign | 0.1572 | benign | -0.135 | Destabilizing | 0.766 | D | 0.407 | neutral | None | None | None | None | I |
| S/M | 0.3406 | ambiguous | 0.2971 | benign | -0.013 | Destabilizing | 0.992 | D | 0.333 | neutral | None | None | None | None | I |
| S/N | 0.1025 | likely_benign | 0.098 | benign | -0.07 | Destabilizing | 0.001 | N | 0.123 | neutral | N | 0.397602887 | None | None | I |
| S/P | 0.1583 | likely_benign | 0.1454 | benign | -0.144 | Destabilizing | 0.92 | D | 0.355 | neutral | None | None | None | None | I |
| S/Q | 0.5945 | likely_pathogenic | 0.5785 | pathogenic | -0.281 | Destabilizing | 0.85 | D | 0.299 | neutral | None | None | None | None | I |
| S/R | 0.6521 | likely_pathogenic | 0.694 | pathogenic | -0.153 | Destabilizing | 0.81 | D | 0.351 | neutral | N | 0.456554715 | None | None | I |
| S/T | 0.1006 | likely_benign | 0.0972 | benign | -0.166 | Destabilizing | 0.334 | N | 0.269 | neutral | N | 0.455540757 | None | None | I |
| S/V | 0.2947 | likely_benign | 0.2657 | benign | -0.144 | Destabilizing | 0.92 | D | 0.429 | neutral | None | None | None | None | I |
| S/W | 0.5488 | ambiguous | 0.5452 | ambiguous | -0.95 | Destabilizing | 0.992 | D | 0.553 | neutral | None | None | None | None | I |
| S/Y | 0.2638 | likely_benign | 0.2575 | benign | -0.635 | Destabilizing | 0.972 | D | 0.407 | neutral | None | None | None | None | I |
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.