Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28775 | 86548;86549;86550 | chr2:178559809;178559808;178559807 | chr2:179424536;179424535;179424534 |
| N2AB | 27134 | 81625;81626;81627 | chr2:178559809;178559808;178559807 | chr2:179424536;179424535;179424534 |
| N2A | 26207 | 78844;78845;78846 | chr2:178559809;178559808;178559807 | chr2:179424536;179424535;179424534 |
| N2B | 19710 | 59353;59354;59355 | chr2:178559809;178559808;178559807 | chr2:179424536;179424535;179424534 |
| Novex-1 | 19835 | 59728;59729;59730 | chr2:178559809;178559808;178559807 | chr2:179424536;179424535;179424534 |
| Novex-2 | 19902 | 59929;59930;59931 | chr2:178559809;178559808;178559807 | chr2:179424536;179424535;179424534 |
| 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/A | rs1201545659  |
-0.615 | 0.309 | D | 0.409 | 0.144 | 0.204665344411 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 9.19118E-04 |
| T/A | rs1201545659 |
-0.615 | 0.309 | D | 0.409 | 0.144 | 0.204665344411 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs1201545659 |
-0.615 | 0.309 | D | 0.409 | 0.144 | 0.204665344411 | gnomAD-4.0.0 | 6.57384E-06 | None | None | None | None | I | None | 0 | 6.55394E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | None | None | 0.939 | N | 0.573 | 0.356 | 0.552900881131 | gnomAD-4.0.0 | 2.05789E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69982E-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 | 0.0869 | likely_benign | 0.088 | benign | -0.797 | Destabilizing | 0.309 | N | 0.409 | neutral | D | 0.525536139 | None | None | I |
| T/C | 0.3399 | likely_benign | 0.3873 | ambiguous | -0.454 | Destabilizing | 0.996 | D | 0.589 | neutral | None | None | None | None | I |
| T/D | 0.3587 | ambiguous | 0.3632 | ambiguous | -0.144 | Destabilizing | 0.742 | D | 0.495 | neutral | None | None | None | None | I |
| T/E | 0.2885 | likely_benign | 0.3043 | benign | -0.148 | Destabilizing | 0.742 | D | 0.435 | neutral | None | None | None | None | I |
| T/F | 0.2157 | likely_benign | 0.2349 | benign | -0.95 | Destabilizing | 0.953 | D | 0.651 | neutral | None | None | None | None | I |
| T/G | 0.2921 | likely_benign | 0.3085 | benign | -1.048 | Destabilizing | 0.59 | D | 0.516 | neutral | None | None | None | None | I |
| T/H | 0.1991 | likely_benign | 0.2162 | benign | -1.349 | Destabilizing | 0.996 | D | 0.643 | neutral | None | None | None | None | I |
| T/I | 0.1531 | likely_benign | 0.1623 | benign | -0.221 | Destabilizing | 0.939 | D | 0.573 | neutral | N | 0.493520824 | None | None | I |
| T/K | 0.2424 | likely_benign | 0.2649 | benign | -0.692 | Destabilizing | 0.037 | N | 0.317 | neutral | None | None | None | None | I |
| T/L | 0.101 | likely_benign | 0.1061 | benign | -0.221 | Destabilizing | 0.742 | D | 0.435 | neutral | None | None | None | None | I |
| T/M | 0.077 | likely_benign | 0.08 | benign | 0.058 | Stabilizing | 0.996 | D | 0.586 | neutral | None | None | None | None | I |
| T/N | 0.1155 | likely_benign | 0.1156 | benign | -0.627 | Destabilizing | 0.684 | D | 0.423 | neutral | N | 0.499253615 | None | None | I |
| T/P | 0.3308 | likely_benign | 0.3128 | benign | -0.381 | Destabilizing | 0.939 | D | 0.565 | neutral | N | 0.492098356 | None | None | I |
| T/Q | 0.2098 | likely_benign | 0.2266 | benign | -0.767 | Destabilizing | 0.91 | D | 0.556 | neutral | None | None | None | None | I |
| T/R | 0.172 | likely_benign | 0.1944 | benign | -0.482 | Destabilizing | 0.02 | N | 0.304 | neutral | None | None | None | None | I |
| T/S | 0.1114 | likely_benign | 0.1115 | benign | -0.897 | Destabilizing | 0.028 | N | 0.2 | neutral | N | 0.463967605 | None | None | I |
| T/V | 0.1204 | likely_benign | 0.1267 | benign | -0.381 | Destabilizing | 0.742 | D | 0.411 | neutral | None | None | None | None | I |
| T/W | 0.4932 | ambiguous | 0.5407 | ambiguous | -0.898 | Destabilizing | 0.996 | D | 0.656 | neutral | None | None | None | None | I |
| T/Y | 0.2301 | likely_benign | 0.249 | benign | -0.655 | Destabilizing | 0.984 | D | 0.652 | 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.