Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34396 | 103411;103412;103413 | chr2:178533429;178533428;178533427 | chr2:179398156;179398155;179398154 |
| N2AB | 32755 | 98488;98489;98490 | chr2:178533429;178533428;178533427 | chr2:179398156;179398155;179398154 |
| N2A | 31828 | 95707;95708;95709 | chr2:178533429;178533428;178533427 | chr2:179398156;179398155;179398154 |
| N2B | 25331 | 76216;76217;76218 | chr2:178533429;178533428;178533427 | chr2:179398156;179398155;179398154 |
| Novex-1 | 25456 | 76591;76592;76593 | chr2:178533429;178533428;178533427 | chr2:179398156;179398155;179398154 |
| Novex-2 | 25523 | 76792;76793;76794 | chr2:178533429;178533428;178533427 | chr2:179398156;179398155;179398154 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs1575264600  |
None | 1.0 | D | 0.86 | 0.93 | 0.92887255943 | 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 |
| W/R | rs1575264600 |
None | 1.0 | D | 0.86 | 0.93 | 0.92887255943 | gnomAD-4.0.0 | 2.47874E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39028E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -2.282 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| W/C | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.062 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.70540674 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.986 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.86 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| W/F | 0.8029 | likely_pathogenic | 0.7543 | pathogenic | -1.486 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| W/G | 0.9944 | likely_pathogenic | 0.9945 | pathogenic | -2.529 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.70540674 | None | None | N |
| W/H | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -2.045 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| W/I | 0.9897 | likely_pathogenic | 0.9898 | pathogenic | -1.37 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.709 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| W/L | 0.9776 | likely_pathogenic | 0.9786 | pathogenic | -1.37 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.705003132 | None | None | N |
| W/M | 0.9945 | likely_pathogenic | 0.9939 | pathogenic | -1.273 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| W/N | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.499 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| W/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.699 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.15 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.836 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.70540674 | None | None | N |
| W/S | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -3.576 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.70540674 | None | None | N |
| W/T | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -3.372 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| W/V | 0.9931 | likely_pathogenic | 0.9929 | pathogenic | -1.699 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| W/Y | 0.9737 | likely_pathogenic | 0.9708 | pathogenic | -1.443 | Destabilizing | 1.0 | D | 0.814 | 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.