Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29642 | 89149;89150;89151 | chr2:178554187;178554186;178554185 | chr2:179418914;179418913;179418912 |
| N2AB | 28001 | 84226;84227;84228 | chr2:178554187;178554186;178554185 | chr2:179418914;179418913;179418912 |
| N2A | 27074 | 81445;81446;81447 | chr2:178554187;178554186;178554185 | chr2:179418914;179418913;179418912 |
| N2B | 20577 | 61954;61955;61956 | chr2:178554187;178554186;178554185 | chr2:179418914;179418913;179418912 |
| Novex-1 | 20702 | 62329;62330;62331 | chr2:178554187;178554186;178554185 | chr2:179418914;179418913;179418912 |
| Novex-2 | 20769 | 62530;62531;62532 | chr2:178554187;178554186;178554185 | chr2:179418914;179418913;179418912 |
| 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/A | rs1318548034  |
-1.605 | 0.999 | N | 0.675 | 0.355 | 0.581945991355 | gnomAD-2.1.1 | 4.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.2E-06 | 0 |
| V/A | rs1318548034 |
-1.605 | 0.999 | N | 0.675 | 0.355 | 0.581945991355 | gnomAD-4.0.0 | 1.60862E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88007E-06 | 0 | 0 |
| V/G | rs1318548034 |
None | 1.0 | N | 0.847 | 0.549 | 0.890244917997 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92976E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs1318548034 |
None | 1.0 | N | 0.847 | 0.549 | 0.890244917997 | gnomAD-4.0.0 | 6.56676E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93424E-04 | None | 0 | 0 | 0 | 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 | 0.2847 | likely_benign | 0.3614 | ambiguous | -1.706 | Destabilizing | 0.999 | D | 0.675 | prob.neutral | N | 0.519385666 | None | None | N |
| V/C | 0.8821 | likely_pathogenic | 0.9025 | pathogenic | -1.114 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| V/D | 0.9691 | likely_pathogenic | 0.9698 | pathogenic | -2.08 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| V/E | 0.9506 | likely_pathogenic | 0.9535 | pathogenic | -1.893 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.489266592 | None | None | N |
| V/F | 0.7668 | likely_pathogenic | 0.8259 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| V/G | 0.5794 | likely_pathogenic | 0.6207 | pathogenic | -2.219 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.499773524 | None | None | N |
| V/H | 0.9874 | likely_pathogenic | 0.9904 | pathogenic | -2.036 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| V/I | 0.112 | likely_benign | 0.117 | benign | -0.301 | Destabilizing | 0.998 | D | 0.623 | neutral | None | None | None | None | N |
| V/K | 0.9707 | likely_pathogenic | 0.9719 | pathogenic | -1.325 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| V/L | 0.6518 | likely_pathogenic | 0.7132 | pathogenic | -0.301 | Destabilizing | 0.997 | D | 0.647 | neutral | N | 0.521292607 | None | None | N |
| V/M | 0.5628 | ambiguous | 0.635 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.501748533 | None | None | N |
| V/N | 0.9107 | likely_pathogenic | 0.9163 | pathogenic | -1.519 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| V/P | 0.6865 | likely_pathogenic | 0.74 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| V/Q | 0.9663 | likely_pathogenic | 0.9716 | pathogenic | -1.401 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| V/R | 0.9581 | likely_pathogenic | 0.9591 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| V/S | 0.7242 | likely_pathogenic | 0.7778 | pathogenic | -2.128 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| V/T | 0.6307 | likely_pathogenic | 0.6951 | pathogenic | -1.796 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | None | N |
| V/W | 0.9944 | likely_pathogenic | 0.9968 | pathogenic | -1.557 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/Y | 0.9622 | likely_pathogenic | 0.971 | pathogenic | -1.121 | Destabilizing | 1.0 | D | 0.846 | 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.