Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2151 | 6676;6677;6678 | chr2:178775413;178775412;178775411 | chr2:179640140;179640139;179640138 |
| N2AB | 2151 | 6676;6677;6678 | chr2:178775413;178775412;178775411 | chr2:179640140;179640139;179640138 |
| N2A | 2151 | 6676;6677;6678 | chr2:178775413;178775412;178775411 | chr2:179640140;179640139;179640138 |
| N2B | 2105 | 6538;6539;6540 | chr2:178775413;178775412;178775411 | chr2:179640140;179640139;179640138 |
| Novex-1 | 2105 | 6538;6539;6540 | chr2:178775413;178775412;178775411 | chr2:179640140;179640139;179640138 |
| Novex-2 | 2105 | 6538;6539;6540 | chr2:178775413;178775412;178775411 | chr2:179640140;179640139;179640138 |
| Novex-3 | 2151 | 6676;6677;6678 | chr2:178775413;178775412;178775411 | chr2:179640140;179640139;179640138 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.999 | D | 0.775 | 0.657 | 0.776336265085 | gnomAD-4.0.0 | 1.59066E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| V/I | rs755654942  |
-0.666 | 0.997 | D | 0.602 | 0.449 | 0.826952020868 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.46E-05 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs755654942 |
-0.666 | 0.997 | D | 0.602 | 0.449 | 0.826952020868 | gnomAD-4.0.0 | 1.59065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85651E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4958 | ambiguous | 0.5226 | ambiguous | -1.915 | Destabilizing | 0.999 | D | 0.775 | deleterious | D | 0.52977745 | None | None | N |
| V/C | 0.8333 | likely_pathogenic | 0.87 | pathogenic | -1.427 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| V/D | 0.997 | likely_pathogenic | 0.9976 | pathogenic | -2.997 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| V/E | 0.9924 | likely_pathogenic | 0.9938 | pathogenic | -2.719 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.687136809 | None | None | N |
| V/F | 0.8987 | likely_pathogenic | 0.9128 | pathogenic | -1.066 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| V/G | 0.7535 | likely_pathogenic | 0.7626 | pathogenic | -2.497 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.687136809 | None | None | N |
| V/H | 0.9981 | likely_pathogenic | 0.9985 | pathogenic | -2.482 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| V/I | 0.1845 | likely_benign | 0.2104 | benign | -0.252 | Destabilizing | 0.997 | D | 0.602 | neutral | D | 0.535586162 | None | None | N |
| V/K | 0.9973 | likely_pathogenic | 0.9976 | pathogenic | -1.523 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/L | 0.6887 | likely_pathogenic | 0.7406 | pathogenic | -0.252 | Destabilizing | 0.997 | D | 0.757 | deleterious | D | 0.533201457 | None | None | N |
| V/M | 0.6641 | likely_pathogenic | 0.7312 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| V/N | 0.9848 | likely_pathogenic | 0.988 | pathogenic | -2.078 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| V/P | 0.9969 | likely_pathogenic | 0.9973 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| V/Q | 0.9906 | likely_pathogenic | 0.9923 | pathogenic | -1.804 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| V/R | 0.9935 | likely_pathogenic | 0.9942 | pathogenic | -1.576 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| V/S | 0.8788 | likely_pathogenic | 0.8955 | pathogenic | -2.599 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| V/T | 0.7696 | likely_pathogenic | 0.7981 | pathogenic | -2.171 | Highly Destabilizing | 0.999 | D | 0.763 | deleterious | None | None | None | None | N |
| V/W | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.733 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/Y | 0.9926 | likely_pathogenic | 0.9933 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.795 | deleterious | 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.