Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32130 | 96613;96614;96615 | chr2:178543585;178543584;178543583 | chr2:179408312;179408311;179408310 |
| N2AB | 30489 | 91690;91691;91692 | chr2:178543585;178543584;178543583 | chr2:179408312;179408311;179408310 |
| N2A | 29562 | 88909;88910;88911 | chr2:178543585;178543584;178543583 | chr2:179408312;179408311;179408310 |
| N2B | 23065 | 69418;69419;69420 | chr2:178543585;178543584;178543583 | chr2:179408312;179408311;179408310 |
| Novex-1 | 23190 | 69793;69794;69795 | chr2:178543585;178543584;178543583 | chr2:179408312;179408311;179408310 |
| Novex-2 | 23257 | 69994;69995;69996 | chr2:178543585;178543584;178543583 | chr2:179408312;179408311;179408310 |
| 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/K | None | -0.16 | 0.579 | N | 0.323 | 0.145 | 0.227260227426 | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| T/K | None | -0.16 | 0.579 | N | 0.323 | 0.145 | 0.227260227426 | gnomAD-4.0.0 | 1.37385E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79922E-06 | 0 | 0 |
| T/M | rs368998895  |
-0.024 | 0.216 | N | 0.275 | 0.11 | None | gnomAD-2.1.1 | 1.82E-05 | None | None | None | None | I | None | 1.24699E-04 | 0 | None | 0 | 5.16E-05 | None | 0 | None | 0 | 7.85E-06 | 0 |
| T/M | rs368998895 |
-0.024 | 0.216 | N | 0.275 | 0.11 | None | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | I | None | 1.44809E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/M | rs368998895 |
-0.024 | 0.216 | N | 0.275 | 0.11 | None | gnomAD-4.0.0 | 7.46315E-06 | None | None | None | None | I | None | 1.06812E-04 | 0 | None | 0 | 2.23125E-05 | None | 0 | 0 | 2.5432E-06 | 0 | 0 |
| T/R | rs368998895 |
0.017 | 0.736 | N | 0.341 | 0.146 | 0.293502639404 | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| T/R | rs368998895 |
0.017 | 0.736 | N | 0.341 | 0.146 | 0.293502639404 | gnomAD-4.0.0 | 1.37385E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79922E-06 | 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 | 0.0537 | likely_benign | 0.0561 | benign | -0.243 | Destabilizing | 0.001 | N | 0.053 | neutral | N | 0.409812541 | None | None | I |
| T/C | 0.2672 | likely_benign | 0.3061 | benign | -0.287 | Destabilizing | 0.836 | D | 0.263 | neutral | None | None | None | None | I |
| T/D | 0.2003 | likely_benign | 0.2427 | benign | 0.211 | Stabilizing | 0.264 | N | 0.352 | neutral | None | None | None | None | I |
| T/E | 0.1557 | likely_benign | 0.1816 | benign | 0.144 | Stabilizing | 0.418 | N | 0.322 | neutral | None | None | None | None | I |
| T/F | 0.1619 | likely_benign | 0.1818 | benign | -0.678 | Destabilizing | 0.716 | D | 0.331 | neutral | None | None | None | None | I |
| T/G | 0.1281 | likely_benign | 0.1436 | benign | -0.382 | Destabilizing | 0.129 | N | 0.319 | neutral | None | None | None | None | I |
| T/H | 0.1777 | likely_benign | 0.2043 | benign | -0.599 | Destabilizing | 0.836 | D | 0.279 | neutral | None | None | None | None | I |
| T/I | 0.081 | likely_benign | 0.0921 | benign | 0.002 | Stabilizing | 0.264 | N | 0.345 | neutral | None | None | None | None | I |
| T/K | 0.1415 | likely_benign | 0.1559 | benign | -0.366 | Destabilizing | 0.579 | D | 0.323 | neutral | N | 0.430494458 | None | None | I |
| T/L | 0.0586 | likely_benign | 0.0611 | benign | 0.002 | Stabilizing | 0.049 | N | 0.317 | neutral | None | None | None | None | I |
| T/M | 0.0693 | likely_benign | 0.0719 | benign | -0.021 | Destabilizing | 0.216 | N | 0.275 | neutral | N | 0.502128057 | None | None | I |
| T/N | 0.0751 | likely_benign | 0.087 | benign | -0.137 | Destabilizing | 0.01 | N | 0.156 | neutral | None | None | None | None | I |
| T/P | 0.089 | likely_benign | 0.0959 | benign | -0.05 | Destabilizing | 0.002 | N | 0.179 | neutral | N | 0.462780235 | None | None | I |
| T/Q | 0.1419 | likely_benign | 0.1618 | benign | -0.327 | Destabilizing | 0.836 | D | 0.349 | neutral | None | None | None | None | I |
| T/R | 0.1404 | likely_benign | 0.1484 | benign | -0.096 | Destabilizing | 0.736 | D | 0.341 | neutral | N | 0.46133744 | None | None | I |
| T/S | 0.0734 | likely_benign | 0.0798 | benign | -0.34 | Destabilizing | 0.009 | N | 0.057 | neutral | N | 0.424800637 | None | None | I |
| T/V | 0.0679 | likely_benign | 0.0733 | benign | -0.05 | Destabilizing | 0.002 | N | 0.138 | neutral | None | None | None | None | I |
| T/W | 0.493 | ambiguous | 0.5194 | ambiguous | -0.719 | Destabilizing | 0.983 | D | 0.291 | neutral | None | None | None | None | I |
| T/Y | 0.1941 | likely_benign | 0.2214 | benign | -0.428 | Destabilizing | 0.836 | D | 0.305 | 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.