Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5154 | 15685;15686;15687 | chr2:178734364;178734363;178734362 | chr2:179599091;179599090;179599089 |
| N2AB | 4837 | 14734;14735;14736 | chr2:178734364;178734363;178734362 | chr2:179599091;179599090;179599089 |
| N2A | 3910 | 11953;11954;11955 | chr2:178734364;178734363;178734362 | chr2:179599091;179599090;179599089 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | None | None | 1.0 | D | 0.857 | 0.796 | 0.8958053 | gnomAD-4.0.0 | 6.87922E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.03556E-07 | 0 | 0 |
| G/S | rs772907723  |
-0.459 | 1.0 | D | 0.793 | 0.732 | 0.6271317 | gnomAD-2.1.1 | 8.14E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| G/S | rs772907723 |
-0.459 | 1.0 | D | 0.793 | 0.732 | 0.6271317 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/S | rs772907723 |
-0.459 | 1.0 | D | 0.793 | 0.732 | 0.6271317 | gnomAD-4.0.0 | 1.30766E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.44711E-05 | 0 | 6.43708E-05 |
| G/V | None | None | 1.0 | D | 0.821 | 0.815 | 0.95662135 | gnomAD-4.0.0 | 1.61089E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.89973E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7981 | likely_pathogenic | 0.8384 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.7397662 | None | None | I |
| G/C | 0.9567 | likely_pathogenic | 0.9701 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.83575094 | None | None | I |
| G/D | 0.9644 | likely_pathogenic | 0.9682 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.70394224 | None | None | I |
| G/E | 0.975 | likely_pathogenic | 0.9748 | pathogenic | -1.192 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/F | 0.9927 | likely_pathogenic | 0.9942 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/H | 0.9918 | likely_pathogenic | 0.9922 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/I | 0.9915 | likely_pathogenic | 0.993 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/K | 0.9901 | likely_pathogenic | 0.9906 | pathogenic | -1.075 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/L | 0.9834 | likely_pathogenic | 0.988 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/M | 0.9907 | likely_pathogenic | 0.9928 | pathogenic | -0.519 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/N | 0.9742 | likely_pathogenic | 0.9766 | pathogenic | -0.643 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/P | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -0.455 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/Q | 0.9757 | likely_pathogenic | 0.9774 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/R | 0.9709 | likely_pathogenic | 0.9703 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.756294 | None | None | I |
| G/S | 0.7224 | likely_pathogenic | 0.7392 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.7274676 | None | None | I |
| G/T | 0.9539 | likely_pathogenic | 0.9542 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/V | 0.9795 | likely_pathogenic | 0.9828 | pathogenic | -0.455 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.8360424 | None | None | I |
| G/W | 0.9852 | likely_pathogenic | 0.9868 | pathogenic | -1.293 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/Y | 0.9896 | likely_pathogenic | 0.9912 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.829 | deleterious | 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.