Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2676 | 8251;8252;8253 | chr2:178771301;178771300;178771299 | chr2:179636028;179636027;179636026 |
| N2AB | 2676 | 8251;8252;8253 | chr2:178771301;178771300;178771299 | chr2:179636028;179636027;179636026 |
| N2A | 2676 | 8251;8252;8253 | chr2:178771301;178771300;178771299 | chr2:179636028;179636027;179636026 |
| N2B | 2630 | 8113;8114;8115 | chr2:178771301;178771300;178771299 | chr2:179636028;179636027;179636026 |
| Novex-1 | 2630 | 8113;8114;8115 | chr2:178771301;178771300;178771299 | chr2:179636028;179636027;179636026 |
| Novex-2 | 2630 | 8113;8114;8115 | chr2:178771301;178771300;178771299 | chr2:179636028;179636027;179636026 |
| Novex-3 | 2676 | 8251;8252;8253 | chr2:178771301;178771300;178771299 | chr2:179636028;179636027;179636026 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs1411544745  |
-1.843 | 1.0 | D | 0.807 | 0.57 | 0.418344901717 | gnomAD-2.1.1 | 7.96E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.09123E-04 | None | 0 | None | 0 | 0 | 0 |
| L/F | rs1411544745 |
-1.843 | 1.0 | D | 0.807 | 0.57 | 0.418344901717 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/F | rs1411544745 |
-1.843 | 1.0 | D | 0.807 | 0.57 | 0.418344901717 | gnomAD-4.0.0 | 7.43507E-06 | None | None | None | None | N | None | 0 | 3.33378E-05 | None | 0 | 1.7838E-04 | None | 0 | 0 | 1.6949E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9149 | likely_pathogenic | 0.9171 | pathogenic | -2.327 | Highly Destabilizing | 0.999 | D | 0.722 | prob.delet. | None | None | None | None | N |
| L/C | 0.8576 | likely_pathogenic | 0.8646 | pathogenic | -1.359 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| L/D | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -2.975 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| L/E | 0.9952 | likely_pathogenic | 0.9937 | pathogenic | -2.683 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| L/F | 0.5793 | likely_pathogenic | 0.5981 | pathogenic | -1.46 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.573364951 | None | None | N |
| L/G | 0.9791 | likely_pathogenic | 0.9784 | pathogenic | -2.846 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| L/H | 0.9844 | likely_pathogenic | 0.9818 | pathogenic | -2.752 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.637632161 | None | None | N |
| L/I | 0.2456 | likely_benign | 0.2547 | benign | -0.742 | Destabilizing | 0.999 | D | 0.636 | neutral | N | 0.4980091 | None | None | N |
| L/K | 0.9889 | likely_pathogenic | 0.9866 | pathogenic | -1.822 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| L/M | 0.2791 | likely_benign | 0.3006 | benign | -0.955 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| L/N | 0.9937 | likely_pathogenic | 0.9922 | pathogenic | -2.602 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| L/P | 0.9978 | likely_pathogenic | 0.9968 | pathogenic | -1.267 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.637632161 | None | None | N |
| L/Q | 0.9723 | likely_pathogenic | 0.9665 | pathogenic | -2.165 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| L/R | 0.9754 | likely_pathogenic | 0.9705 | pathogenic | -2.152 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.637632161 | None | None | N |
| L/S | 0.9914 | likely_pathogenic | 0.9908 | pathogenic | -2.915 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| L/T | 0.9717 | likely_pathogenic | 0.9712 | pathogenic | -2.471 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| L/V | 0.3133 | likely_benign | 0.3184 | benign | -1.267 | Destabilizing | 0.999 | D | 0.639 | neutral | D | 0.576292962 | None | None | N |
| L/W | 0.9497 | likely_pathogenic | 0.9421 | pathogenic | -1.709 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| L/Y | 0.9476 | likely_pathogenic | 0.9452 | pathogenic | -1.626 | Destabilizing | 1.0 | D | 0.842 | 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.