Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25830 | 77713;77714;77715 | chr2:178568644;178568643;178568642 | chr2:179433371;179433370;179433369 |
| N2AB | 24189 | 72790;72791;72792 | chr2:178568644;178568643;178568642 | chr2:179433371;179433370;179433369 |
| N2A | 23262 | 70009;70010;70011 | chr2:178568644;178568643;178568642 | chr2:179433371;179433370;179433369 |
| N2B | 16765 | 50518;50519;50520 | chr2:178568644;178568643;178568642 | chr2:179433371;179433370;179433369 |
| Novex-1 | 16890 | 50893;50894;50895 | chr2:178568644;178568643;178568642 | chr2:179433371;179433370;179433369 |
| Novex-2 | 16957 | 51094;51095;51096 | chr2:178568644;178568643;178568642 | chr2:179433371;179433370;179433369 |
| 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/N | rs1475904379  |
-0.491 | 0.331 | N | 0.548 | 0.245 | 0.372446077551 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/N | rs1475904379 |
-0.491 | 0.331 | N | 0.548 | 0.245 | 0.372446077551 | gnomAD-4.0.0 | 1.59205E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43332E-05 | 0 |
| T/S | rs1475904379 |
-0.779 | 0.001 | N | 0.351 | 0.051 | 0.134241683229 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.665E-04 |
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 | 0.0783 | likely_benign | 0.0743 | benign | -0.672 | Destabilizing | 0.002 | N | 0.237 | neutral | D | 0.534520982 | None | None | N |
| T/C | 0.2679 | likely_benign | 0.2433 | benign | -0.415 | Destabilizing | 0.909 | D | 0.653 | neutral | None | None | None | None | N |
| T/D | 0.3984 | ambiguous | 0.3572 | ambiguous | 0.174 | Stabilizing | 0.396 | N | 0.641 | neutral | None | None | None | None | N |
| T/E | 0.2947 | likely_benign | 0.2612 | benign | 0.159 | Stabilizing | 0.157 | N | 0.624 | neutral | None | None | None | None | N |
| T/F | 0.1556 | likely_benign | 0.1376 | benign | -0.894 | Destabilizing | 0.726 | D | 0.722 | prob.delet. | None | None | None | None | N |
| T/G | 0.2332 | likely_benign | 0.2004 | benign | -0.896 | Destabilizing | 0.157 | N | 0.659 | neutral | None | None | None | None | N |
| T/H | 0.1767 | likely_benign | 0.1679 | benign | -1.131 | Destabilizing | 0.909 | D | 0.703 | prob.neutral | None | None | None | None | N |
| T/I | 0.0996 | likely_benign | 0.0854 | benign | -0.181 | Destabilizing | 0.497 | N | 0.655 | neutral | D | 0.536715925 | None | None | N |
| T/K | 0.1888 | likely_benign | 0.1794 | benign | -0.496 | Destabilizing | 0.157 | N | 0.627 | neutral | None | None | None | None | N |
| T/L | 0.0761 | likely_benign | 0.0697 | benign | -0.181 | Destabilizing | 0.272 | N | 0.597 | neutral | None | None | None | None | N |
| T/M | 0.0846 | likely_benign | 0.0788 | benign | -0.028 | Destabilizing | 0.968 | D | 0.659 | neutral | None | None | None | None | N |
| T/N | 0.1104 | likely_benign | 0.1013 | benign | -0.428 | Destabilizing | 0.331 | N | 0.548 | neutral | N | 0.504432602 | None | None | N |
| T/P | 0.668 | likely_pathogenic | 0.6532 | pathogenic | -0.312 | Destabilizing | 0.497 | N | 0.687 | prob.neutral | D | 0.539426571 | None | None | N |
| T/Q | 0.1876 | likely_benign | 0.1767 | benign | -0.565 | Destabilizing | 0.567 | D | 0.689 | prob.neutral | None | None | None | None | N |
| T/R | 0.1668 | likely_benign | 0.1584 | benign | -0.277 | Destabilizing | 0.567 | D | 0.685 | prob.neutral | None | None | None | None | N |
| T/S | 0.088 | likely_benign | 0.0807 | benign | -0.713 | Destabilizing | 0.001 | N | 0.351 | neutral | N | 0.453209107 | None | None | N |
| T/V | 0.0941 | likely_benign | 0.0845 | benign | -0.312 | Destabilizing | 0.272 | N | 0.539 | neutral | None | None | None | None | N |
| T/W | 0.5094 | ambiguous | 0.4723 | ambiguous | -0.85 | Destabilizing | 0.968 | D | 0.701 | prob.neutral | None | None | None | None | N |
| T/Y | 0.1961 | likely_benign | 0.1811 | benign | -0.591 | Destabilizing | 0.726 | D | 0.729 | prob.delet. | None | None | None | None | 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.