Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 114 | 565;566;567 | chr2:178800638;178800637;178800636 | chr2:179665365;179665364;179665363 |
| N2AB | 114 | 565;566;567 | chr2:178800638;178800637;178800636 | chr2:179665365;179665364;179665363 |
| N2A | 114 | 565;566;567 | chr2:178800638;178800637;178800636 | chr2:179665365;179665364;179665363 |
| N2B | 114 | 565;566;567 | chr2:178800638;178800637;178800636 | chr2:179665365;179665364;179665363 |
| Novex-1 | 114 | 565;566;567 | chr2:178800638;178800637;178800636 | chr2:179665365;179665364;179665363 |
| Novex-2 | 114 | 565;566;567 | chr2:178800638;178800637;178800636 | chr2:179665365;179665364;179665363 |
| Novex-3 | 114 | 565;566;567 | chr2:178800638;178800637;178800636 | chr2:179665365;179665364;179665363 |
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 | rs750606005  |
None | 1.0 | N | 0.7 | 0.51 | 0.65257939742 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.162(TCAP) | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs750606005 |
None | 1.0 | N | 0.7 | 0.51 | 0.65257939742 | gnomAD-4.0.0 | 6.57073E-06 | None | None | None | -0.162(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46985E-05 | 0 | 0 |
| T/N | rs750606005 |
-0.382 | 0.996 | D | 0.679 | 0.351 | 0.578813787709 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | -0.392(TCAP) | N | None | 0 | 0 | None | 0 | 1.00311E-04 | None | 0 | None | 0 | 7.82E-06 | 0 |
| T/N | rs750606005 |
-0.382 | 0.996 | D | 0.679 | 0.351 | 0.578813787709 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.392(TCAP) | N | None | 0 | 0 | 0 | 0 | 1.92678E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | rs750606005 |
-0.382 | 0.996 | D | 0.679 | 0.351 | 0.578813787709 | gnomAD-4.0.0 | 2.56822E-06 | None | None | None | -0.392(TCAP) | N | None | 0 | 0 | None | 0 | 4.8506E-05 | 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 | 0.1985 | likely_benign | 0.2577 | benign | -0.356 | Destabilizing | 0.829 | D | 0.526 | neutral | N | 0.502157437 | None | -0.178(TCAP) | N |
| T/C | 0.9057 | likely_pathogenic | 0.9323 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | 0.236(TCAP) | N |
| T/D | 0.7937 | likely_pathogenic | 0.865 | pathogenic | 0.29 | Stabilizing | 0.997 | D | 0.676 | prob.neutral | None | None | None | -0.202(TCAP) | N |
| T/E | 0.6063 | likely_pathogenic | 0.6995 | pathogenic | 0.245 | Stabilizing | 0.999 | D | 0.673 | neutral | None | None | None | -0.233(TCAP) | N |
| T/F | 0.694 | likely_pathogenic | 0.7983 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | -0.27(TCAP) | N |
| T/G | 0.7325 | likely_pathogenic | 0.8033 | pathogenic | -0.532 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | -0.186(TCAP) | N |
| T/H | 0.606 | likely_pathogenic | 0.6883 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | 0.329(TCAP) | N |
| T/I | 0.3821 | ambiguous | 0.469 | ambiguous | -0.004 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | N | 0.507384071 | None | -0.162(TCAP) | N |
| T/K | 0.4334 | ambiguous | 0.5097 | ambiguous | -0.412 | Destabilizing | 0.999 | D | 0.682 | prob.neutral | None | None | None | -0.039(TCAP) | N |
| T/L | 0.2883 | likely_benign | 0.3576 | ambiguous | -0.004 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | -0.162(TCAP) | N |
| T/M | 0.1711 | likely_benign | 0.2149 | benign | -0.019 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | 0.539(TCAP) | N |
| T/N | 0.3382 | likely_benign | 0.4325 | ambiguous | -0.288 | Destabilizing | 0.996 | D | 0.679 | prob.neutral | D | 0.54741835 | None | -0.392(TCAP) | N |
| T/P | 0.5638 | ambiguous | 0.6692 | pathogenic | -0.09 | Destabilizing | 0.998 | D | 0.694 | prob.neutral | D | 0.606533549 | None | -0.166(TCAP) | N |
| T/Q | 0.4384 | ambiguous | 0.5228 | ambiguous | -0.445 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | -0.23(TCAP) | N |
| T/R | 0.3906 | ambiguous | 0.4858 | ambiguous | -0.164 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | 0.094(TCAP) | N |
| T/S | 0.3055 | likely_benign | 0.3886 | ambiguous | -0.529 | Destabilizing | 0.478 | N | 0.32 | neutral | N | 0.493178448 | None | -0.327(TCAP) | N |
| T/V | 0.2629 | likely_benign | 0.3051 | benign | -0.09 | Destabilizing | 0.998 | D | 0.602 | neutral | None | None | None | -0.166(TCAP) | N |
| T/W | 0.9087 | likely_pathogenic | 0.9456 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | -0.263(TCAP) | N |
| T/Y | 0.7126 | likely_pathogenic | 0.8074 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | -0.135(TCAP) | 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.