Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23592 | 70999;71000;71001 | chr2:178575358;178575357;178575356 | chr2:179440085;179440084;179440083 |
| N2AB | 21951 | 66076;66077;66078 | chr2:178575358;178575357;178575356 | chr2:179440085;179440084;179440083 |
| N2A | 21024 | 63295;63296;63297 | chr2:178575358;178575357;178575356 | chr2:179440085;179440084;179440083 |
| N2B | 14527 | 43804;43805;43806 | chr2:178575358;178575357;178575356 | chr2:179440085;179440084;179440083 |
| Novex-1 | 14652 | 44179;44180;44181 | chr2:178575358;178575357;178575356 | chr2:179440085;179440084;179440083 |
| Novex-2 | 14719 | 44380;44381;44382 | chr2:178575358;178575357;178575356 | chr2:179440085;179440084;179440083 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/M | rs1404037979  |
-0.268 | 0.667 | N | 0.703 | 0.371 | 0.627518315997 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| V/M | rs1404037979 |
-0.268 | 0.667 | N | 0.703 | 0.371 | 0.627518315997 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/M | rs1404037979 |
-0.268 | 0.667 | N | 0.703 | 0.371 | 0.627518315997 | gnomAD-4.0.0 | 6.08973E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.02476E-06 | 0 | 3.40252E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3502 | ambiguous | 0.3106 | benign | -1.856 | Destabilizing | None | N | 0.301 | neutral | N | 0.476353351 | None | None | N |
| V/C | 0.7931 | likely_pathogenic | 0.8199 | pathogenic | -1.448 | Destabilizing | 0.909 | D | 0.743 | deleterious | None | None | None | None | N |
| V/D | 0.9723 | likely_pathogenic | 0.9677 | pathogenic | -1.928 | Destabilizing | 0.567 | D | 0.826 | deleterious | None | None | None | None | N |
| V/E | 0.9139 | likely_pathogenic | 0.9072 | pathogenic | -1.722 | Destabilizing | 0.497 | N | 0.806 | deleterious | D | 0.522703625 | None | None | N |
| V/F | 0.4322 | ambiguous | 0.4208 | ambiguous | -1.117 | Destabilizing | 0.726 | D | 0.758 | deleterious | None | None | None | None | N |
| V/G | 0.6797 | likely_pathogenic | 0.6244 | pathogenic | -2.384 | Highly Destabilizing | 0.001 | N | 0.559 | neutral | D | 0.54558082 | None | None | N |
| V/H | 0.9519 | likely_pathogenic | 0.9586 | pathogenic | -2.004 | Highly Destabilizing | 0.968 | D | 0.819 | deleterious | None | None | None | None | N |
| V/I | 0.0986 | likely_benign | 0.0985 | benign | -0.403 | Destabilizing | 0.272 | N | 0.647 | neutral | None | None | None | None | N |
| V/K | 0.9308 | likely_pathogenic | 0.9409 | pathogenic | -1.538 | Destabilizing | 0.567 | D | 0.812 | deleterious | None | None | None | None | N |
| V/L | 0.3699 | ambiguous | 0.3427 | ambiguous | -0.403 | Destabilizing | 0.055 | N | 0.73 | prob.delet. | N | 0.496295375 | None | None | N |
| V/M | 0.4086 | ambiguous | 0.3911 | ambiguous | -0.455 | Destabilizing | 0.667 | D | 0.703 | prob.neutral | N | 0.510840341 | None | None | N |
| V/N | 0.9228 | likely_pathogenic | 0.9189 | pathogenic | -1.792 | Destabilizing | 0.567 | D | 0.829 | deleterious | None | None | None | None | N |
| V/P | 0.9181 | likely_pathogenic | 0.9035 | pathogenic | -0.858 | Destabilizing | 0.567 | D | 0.811 | deleterious | None | None | None | None | N |
| V/Q | 0.8881 | likely_pathogenic | 0.8955 | pathogenic | -1.625 | Destabilizing | 0.726 | D | 0.798 | deleterious | None | None | None | None | N |
| V/R | 0.8883 | likely_pathogenic | 0.901 | pathogenic | -1.418 | Destabilizing | 0.567 | D | 0.829 | deleterious | None | None | None | None | N |
| V/S | 0.7079 | likely_pathogenic | 0.6804 | pathogenic | -2.474 | Highly Destabilizing | 0.157 | N | 0.782 | deleterious | None | None | None | None | N |
| V/T | 0.6033 | likely_pathogenic | 0.5637 | ambiguous | -2.102 | Highly Destabilizing | 0.157 | N | 0.733 | prob.delet. | None | None | None | None | N |
| V/W | 0.9587 | likely_pathogenic | 0.9652 | pathogenic | -1.51 | Destabilizing | 0.968 | D | 0.801 | deleterious | None | None | None | None | N |
| V/Y | 0.8569 | likely_pathogenic | 0.8666 | pathogenic | -1.121 | Destabilizing | 0.726 | D | 0.744 | 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.