Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6459 | 19600;19601;19602 | chr2:178728551;178728550;178728549 | chr2:179593278;179593277;179593276 |
| N2AB | 6142 | 18649;18650;18651 | chr2:178728551;178728550;178728549 | chr2:179593278;179593277;179593276 |
| N2A | 5215 | 15868;15869;15870 | chr2:178728551;178728550;178728549 | chr2:179593278;179593277;179593276 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/L | None | None | 0.997 | N | 0.628 | 0.56 | 0.697899727133 | gnomAD-4.0.0 | 6.84594E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65782E-05 |
| V/M | rs759353216  |
-1.201 | 1.0 | D | 0.825 | 0.608 | 0.72350983837 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.56E-05 | 0 |
| V/M | rs759353216 |
-1.201 | 1.0 | D | 0.825 | 0.608 | 0.72350983837 | 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 | rs759353216 |
-1.201 | 1.0 | D | 0.825 | 0.608 | 0.72350983837 | gnomAD-4.0.0 | 5.58018E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.63086E-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 | 0.5083 | ambiguous | 0.3763 | ambiguous | -2.231 | Highly Destabilizing | 0.999 | D | 0.609 | neutral | N | 0.457070558 | None | None | N |
| V/C | 0.9739 | likely_pathogenic | 0.9674 | pathogenic | -2.118 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/D | 0.9962 | likely_pathogenic | 0.9951 | pathogenic | -2.949 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| V/E | 0.9876 | likely_pathogenic | 0.9845 | pathogenic | -2.704 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.555158332 | None | None | N |
| V/F | 0.9232 | likely_pathogenic | 0.8851 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/G | 0.8368 | likely_pathogenic | 0.7917 | pathogenic | -2.776 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | N | 0.518696332 | None | None | N |
| V/H | 0.9987 | likely_pathogenic | 0.9981 | pathogenic | -2.455 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| V/I | 0.14 | likely_benign | 0.1364 | benign | -0.693 | Destabilizing | 0.998 | D | 0.549 | neutral | None | None | None | None | N |
| V/K | 0.9956 | likely_pathogenic | 0.9948 | pathogenic | -1.752 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| V/L | 0.7293 | likely_pathogenic | 0.713 | pathogenic | -0.693 | Destabilizing | 0.997 | D | 0.628 | neutral | N | 0.517428885 | None | None | N |
| V/M | 0.7424 | likely_pathogenic | 0.693 | pathogenic | -1.088 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.536800587 | None | None | N |
| V/N | 0.9926 | likely_pathogenic | 0.9894 | pathogenic | -2.212 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| V/P | 0.9963 | likely_pathogenic | 0.995 | pathogenic | -1.182 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| V/Q | 0.9919 | likely_pathogenic | 0.9893 | pathogenic | -2.016 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| V/R | 0.9896 | likely_pathogenic | 0.9878 | pathogenic | -1.649 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| V/S | 0.9262 | likely_pathogenic | 0.8851 | pathogenic | -2.827 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| V/T | 0.7556 | likely_pathogenic | 0.6827 | pathogenic | -2.432 | Highly Destabilizing | 0.999 | D | 0.634 | neutral | None | None | None | None | N |
| V/W | 0.9987 | likely_pathogenic | 0.998 | pathogenic | -1.764 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| V/Y | 0.9932 | likely_pathogenic | 0.9898 | pathogenic | -1.424 | Destabilizing | 1.0 | D | 0.869 | 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.