Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20063 | 60412;60413;60414 | chr2:178591632;178591631;178591630 | chr2:179456359;179456358;179456357 |
| N2AB | 18422 | 55489;55490;55491 | chr2:178591632;178591631;178591630 | chr2:179456359;179456358;179456357 |
| N2A | 17495 | 52708;52709;52710 | chr2:178591632;178591631;178591630 | chr2:179456359;179456358;179456357 |
| N2B | 10998 | 33217;33218;33219 | chr2:178591632;178591631;178591630 | chr2:179456359;179456358;179456357 |
| Novex-1 | 11123 | 33592;33593;33594 | chr2:178591632;178591631;178591630 | chr2:179456359;179456358;179456357 |
| Novex-2 | 11190 | 33793;33794;33795 | chr2:178591632;178591631;178591630 | chr2:179456359;179456358;179456357 |
| 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 | None | None | 0.999 | N | 0.787 | 0.385 | 0.430351802785 | gnomAD-4.0.0 | 6.84367E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99635E-07 | 0 | 0 |
| T/K | None | None | 0.999 | N | 0.777 | 0.439 | 0.405700215632 | gnomAD-4.0.0 | 2.73747E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59854E-06 | 0 | 0 |
| T/R | rs1560220  |
-0.216 | 0.999 | N | 0.767 | 0.398 | 0.579627256647 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 1.16029E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/R | rs1560220 |
-0.216 | 0.999 | N | 0.767 | 0.398 | 0.579627256647 | gnomAD-4.0.0 | 3.42184E-06 | None | None | None | None | I | None | 0 | 1.11832E-04 | None | 0 | 0 | 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 | 0.1329 | likely_benign | 0.1339 | benign | -1.002 | Destabilizing | 0.997 | D | 0.736 | deleterious | N | 0.464238885 | None | None | I |
| T/C | 0.5762 | likely_pathogenic | 0.6048 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| T/D | 0.563 | ambiguous | 0.5948 | pathogenic | -0.13 | Destabilizing | 0.999 | D | 0.776 | deleterious | None | None | None | None | I |
| T/E | 0.3796 | ambiguous | 0.4135 | ambiguous | -0.066 | Destabilizing | 0.999 | D | 0.77 | deleterious | None | None | None | None | I |
| T/F | 0.3579 | ambiguous | 0.3958 | ambiguous | -0.895 | Destabilizing | 0.999 | D | 0.857 | deleterious | None | None | None | None | I |
| T/G | 0.4813 | ambiguous | 0.499 | ambiguous | -1.321 | Destabilizing | 0.999 | D | 0.705 | prob.delet. | None | None | None | None | I |
| T/H | 0.3801 | ambiguous | 0.3951 | ambiguous | -1.436 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| T/I | 0.2038 | likely_benign | 0.2198 | benign | -0.22 | Destabilizing | 0.999 | D | 0.787 | deleterious | N | 0.480805848 | None | None | I |
| T/K | 0.3396 | likely_benign | 0.3709 | ambiguous | -0.602 | Destabilizing | 0.999 | D | 0.777 | deleterious | N | 0.473935804 | None | None | I |
| T/L | 0.1535 | likely_benign | 0.1632 | benign | -0.22 | Destabilizing | 0.998 | D | 0.778 | deleterious | None | None | None | None | I |
| T/M | 0.1238 | likely_benign | 0.1211 | benign | -0.05 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| T/N | 0.2067 | likely_benign | 0.2094 | benign | -0.702 | Destabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | I |
| T/P | 0.4371 | ambiguous | 0.4428 | ambiguous | -0.448 | Destabilizing | 0.999 | D | 0.778 | deleterious | N | 0.457350198 | None | None | I |
| T/Q | 0.3262 | likely_benign | 0.3466 | ambiguous | -0.719 | Destabilizing | 0.999 | D | 0.809 | deleterious | None | None | None | None | I |
| T/R | 0.2945 | likely_benign | 0.3297 | benign | -0.49 | Destabilizing | 0.999 | D | 0.767 | deleterious | N | 0.482536644 | None | None | I |
| T/S | 0.1709 | likely_benign | 0.172 | benign | -1.051 | Destabilizing | 0.997 | D | 0.744 | deleterious | N | 0.453675175 | None | None | I |
| T/V | 0.16 | likely_benign | 0.1724 | benign | -0.448 | Destabilizing | 0.998 | D | 0.783 | deleterious | None | None | None | None | I |
| T/W | 0.7553 | likely_pathogenic | 0.7918 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| T/Y | 0.4045 | ambiguous | 0.4379 | ambiguous | -0.603 | Destabilizing | 1.0 | D | 0.864 | deleterious | 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.