Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20359 | 61300;61301;61302 | chr2:178590650;178590649;178590648 | chr2:179455377;179455376;179455375 |
| N2AB | 18718 | 56377;56378;56379 | chr2:178590650;178590649;178590648 | chr2:179455377;179455376;179455375 |
| N2A | 17791 | 53596;53597;53598 | chr2:178590650;178590649;178590648 | chr2:179455377;179455376;179455375 |
| N2B | 11294 | 34105;34106;34107 | chr2:178590650;178590649;178590648 | chr2:179455377;179455376;179455375 |
| Novex-1 | 11419 | 34480;34481;34482 | chr2:178590650;178590649;178590648 | chr2:179455377;179455376;179455375 |
| Novex-2 | 11486 | 34681;34682;34683 | chr2:178590650;178590649;178590648 | chr2:179455377;179455376;179455375 |
| 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 | rs762408700  |
-1.228 | 0.627 | N | 0.343 | 0.119 | 0.173771789658 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.55E-05 | 0 |
| S/G | rs762408700 |
-1.228 | 0.627 | N | 0.343 | 0.119 | 0.173771789658 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| S/G | rs762408700 |
-1.228 | 0.627 | N | 0.343 | 0.119 | 0.173771789658 | gnomAD-4.0.0 | 8.67898E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.10223E-05 | 0 | 1.60159E-05 |
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 | 0.0539 | likely_benign | 0.0579 | benign | -0.917 | Destabilizing | 0.09 | N | 0.344 | neutral | None | None | None | None | N |
| S/C | 0.0709 | likely_benign | 0.0772 | benign | -0.602 | Destabilizing | 0.947 | D | 0.416 | neutral | N | 0.488886614 | None | None | N |
| S/D | 0.4867 | ambiguous | 0.502 | ambiguous | -0.598 | Destabilizing | 0.691 | D | 0.364 | neutral | None | None | None | None | N |
| S/E | 0.4909 | ambiguous | 0.5031 | ambiguous | -0.581 | Destabilizing | 0.691 | D | 0.301 | neutral | None | None | None | None | N |
| S/F | 0.1854 | likely_benign | 0.2045 | benign | -0.982 | Destabilizing | 0.794 | D | 0.642 | neutral | None | None | None | None | N |
| S/G | 0.0858 | likely_benign | 0.0968 | benign | -1.189 | Destabilizing | 0.627 | D | 0.343 | neutral | N | 0.515110423 | None | None | N |
| S/H | 0.3396 | likely_benign | 0.3728 | ambiguous | -1.6 | Destabilizing | 0.989 | D | 0.411 | neutral | None | None | None | None | N |
| S/I | 0.0833 | likely_benign | 0.0917 | benign | -0.289 | Destabilizing | 0.005 | N | 0.393 | neutral | N | 0.4192746 | None | None | N |
| S/K | 0.5886 | likely_pathogenic | 0.611 | pathogenic | -0.882 | Destabilizing | 0.691 | D | 0.305 | neutral | None | None | None | None | N |
| S/L | 0.08 | likely_benign | 0.0891 | benign | -0.289 | Destabilizing | 0.001 | N | 0.376 | neutral | None | None | None | None | N |
| S/M | 0.1619 | likely_benign | 0.1941 | benign | 0.049 | Stabilizing | 0.794 | D | 0.426 | neutral | None | None | None | None | N |
| S/N | 0.1408 | likely_benign | 0.1557 | benign | -0.881 | Destabilizing | 0.627 | D | 0.337 | neutral | N | 0.47362916 | None | None | N |
| S/P | 0.0625 | likely_benign | 0.0636 | benign | -0.465 | Destabilizing | 0.96 | D | 0.525 | neutral | None | None | None | None | N |
| S/Q | 0.4096 | ambiguous | 0.4453 | ambiguous | -1.026 | Destabilizing | 0.96 | D | 0.367 | neutral | None | None | None | None | N |
| S/R | 0.5068 | ambiguous | 0.5209 | ambiguous | -0.754 | Destabilizing | 0.855 | D | 0.503 | neutral | N | 0.496177945 | None | None | N |
| S/T | 0.0725 | likely_benign | 0.0831 | benign | -0.873 | Destabilizing | 0.011 | N | 0.241 | neutral | N | 0.441535384 | None | None | N |
| S/V | 0.0886 | likely_benign | 0.1038 | benign | -0.465 | Destabilizing | 0.001 | N | 0.391 | neutral | None | None | None | None | N |
| S/W | 0.3589 | ambiguous | 0.3997 | ambiguous | -0.95 | Destabilizing | 0.989 | D | 0.673 | prob.neutral | None | None | None | None | N |
| S/Y | 0.204 | likely_benign | 0.2167 | benign | -0.708 | Destabilizing | 0.887 | D | 0.609 | neutral | 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.