Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3119 | 9580;9581;9582 | chr2:178767875;178767874;178767873 | chr2:179632602;179632601;179632600 |
| N2AB | 3119 | 9580;9581;9582 | chr2:178767875;178767874;178767873 | chr2:179632602;179632601;179632600 |
| N2A | 3119 | 9580;9581;9582 | chr2:178767875;178767874;178767873 | chr2:179632602;179632601;179632600 |
| N2B | 3073 | 9442;9443;9444 | chr2:178767875;178767874;178767873 | chr2:179632602;179632601;179632600 |
| Novex-1 | 3073 | 9442;9443;9444 | chr2:178767875;178767874;178767873 | chr2:179632602;179632601;179632600 |
| Novex-2 | 3073 | 9442;9443;9444 | chr2:178767875;178767874;178767873 | chr2:179632602;179632601;179632600 |
| Novex-3 | 3119 | 9580;9581;9582 | chr2:178767875;178767874;178767873 | chr2:179632602;179632601;179632600 |
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 | None | None | 0.003 | N | 0.225 | 0.164 | 0.124217242631 | gnomAD-4.0.0 | 6.84078E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 0 |
| T/I | rs1444407818  |
-0.346 | 0.309 | N | 0.516 | 0.227 | 0.273503213844 | gnomAD-2.1.1 | 7.08E-06 | None | None | None | None | N | None | 0 | 2.82E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.76E-06 | 0 |
| T/I | rs1444407818 |
-0.346 | 0.309 | N | 0.516 | 0.227 | 0.273503213844 | gnomAD-4.0.0 | 1.59054E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85651E-06 | 0 | 0 |
| T/S | rs775164752 |
-1.723 | 0.028 | N | 0.264 | 0.16 | 0.158396225186 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.76E-05 | 0 |
| T/S | rs775164752 |
-1.723 | 0.028 | N | 0.264 | 0.16 | 0.158396225186 | gnomAD-4.0.0 | 4.78854E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29507E-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 | 0.1134 | likely_benign | 0.1375 | benign | -1.226 | Destabilizing | 0.003 | N | 0.225 | neutral | N | 0.454236192 | None | None | N |
| T/C | 0.5077 | ambiguous | 0.5344 | ambiguous | -1.556 | Destabilizing | 0.987 | D | 0.61 | neutral | None | None | None | None | N |
| T/D | 0.9934 | likely_pathogenic | 0.9943 | pathogenic | -2.678 | Highly Destabilizing | 0.742 | D | 0.572 | neutral | None | None | None | None | N |
| T/E | 0.9853 | likely_pathogenic | 0.9897 | pathogenic | -2.509 | Highly Destabilizing | 0.742 | D | 0.553 | neutral | None | None | None | None | N |
| T/F | 0.9601 | likely_pathogenic | 0.9783 | pathogenic | -1.05 | Destabilizing | 0.953 | D | 0.67 | neutral | None | None | None | None | N |
| T/G | 0.7637 | likely_pathogenic | 0.8126 | pathogenic | -1.538 | Destabilizing | 0.59 | D | 0.545 | neutral | None | None | None | None | N |
| T/H | 0.9776 | likely_pathogenic | 0.9855 | pathogenic | -1.579 | Destabilizing | 0.996 | D | 0.625 | neutral | None | None | None | None | N |
| T/I | 0.455 | ambiguous | 0.6165 | pathogenic | -0.43 | Destabilizing | 0.309 | N | 0.516 | neutral | N | 0.484682989 | None | None | N |
| T/K | 0.9824 | likely_pathogenic | 0.9889 | pathogenic | -1.01 | Destabilizing | 0.742 | D | 0.569 | neutral | None | None | None | None | N |
| T/L | 0.3638 | ambiguous | 0.4577 | ambiguous | -0.43 | Destabilizing | 0.373 | N | 0.497 | neutral | None | None | None | None | N |
| T/M | 0.3758 | ambiguous | 0.4798 | ambiguous | -0.584 | Destabilizing | 0.953 | D | 0.629 | neutral | None | None | None | None | N |
| T/N | 0.8667 | likely_pathogenic | 0.8926 | pathogenic | -1.785 | Destabilizing | 0.684 | D | 0.587 | neutral | D | 0.602453034 | None | None | N |
| T/P | 0.6024 | likely_pathogenic | 0.6735 | pathogenic | -0.668 | Destabilizing | 0.939 | D | 0.637 | neutral | N | 0.509043974 | None | None | N |
| T/Q | 0.9613 | likely_pathogenic | 0.9731 | pathogenic | -1.7 | Destabilizing | 0.91 | D | 0.649 | neutral | None | None | None | None | N |
| T/R | 0.9657 | likely_pathogenic | 0.9782 | pathogenic | -0.972 | Destabilizing | 0.91 | D | 0.647 | neutral | None | None | None | None | N |
| T/S | 0.3983 | ambiguous | 0.4202 | ambiguous | -1.795 | Destabilizing | 0.028 | N | 0.264 | neutral | N | 0.507573053 | None | None | N |
| T/V | 0.1912 | likely_benign | 0.2662 | benign | -0.668 | Destabilizing | 0.004 | N | 0.183 | neutral | None | None | None | None | N |
| T/W | 0.9971 | likely_pathogenic | 0.998 | pathogenic | -1.285 | Destabilizing | 0.996 | D | 0.616 | neutral | None | None | None | None | N |
| T/Y | 0.9854 | likely_pathogenic | 0.9915 | pathogenic | -0.876 | Destabilizing | 0.984 | D | 0.674 | 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.