Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33718 | 101377;101378;101379 | chr2:178535463;178535462;178535461 | chr2:179400190;179400189;179400188 |
| N2AB | 32077 | 96454;96455;96456 | chr2:178535463;178535462;178535461 | chr2:179400190;179400189;179400188 |
| N2A | 31150 | 93673;93674;93675 | chr2:178535463;178535462;178535461 | chr2:179400190;179400189;179400188 |
| N2B | 24653 | 74182;74183;74184 | chr2:178535463;178535462;178535461 | chr2:179400190;179400189;179400188 |
| Novex-1 | 24778 | 74557;74558;74559 | chr2:178535463;178535462;178535461 | chr2:179400190;179400189;179400188 |
| Novex-2 | 24845 | 74758;74759;74760 | chr2:178535463;178535462;178535461 | chr2:179400190;179400189;179400188 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs760711365  |
-0.549 | 0.999 | N | 0.687 | 0.477 | 0.356484672536 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| G/S | rs760711365 |
-0.549 | 0.999 | N | 0.687 | 0.477 | 0.356484672536 | gnomAD-4.0.0 | 1.59119E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85794E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8513 | likely_pathogenic | 0.6778 | pathogenic | -0.075 | Destabilizing | 0.997 | D | 0.608 | neutral | N | 0.495359886 | None | None | N |
| G/C | 0.9261 | likely_pathogenic | 0.7812 | pathogenic | -0.791 | Destabilizing | 1.0 | D | 0.788 | deleterious | N | 0.521644123 | None | None | N |
| G/D | 0.9209 | likely_pathogenic | 0.8063 | pathogenic | -0.06 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | N | 0.507752922 | None | None | N |
| G/E | 0.9557 | likely_pathogenic | 0.8668 | pathogenic | -0.208 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/F | 0.9805 | likely_pathogenic | 0.9503 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| G/H | 0.9755 | likely_pathogenic | 0.9116 | pathogenic | -0.277 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/I | 0.9778 | likely_pathogenic | 0.9347 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/K | 0.9765 | likely_pathogenic | 0.9155 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/L | 0.9785 | likely_pathogenic | 0.9371 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/M | 0.9858 | likely_pathogenic | 0.9575 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| G/N | 0.9292 | likely_pathogenic | 0.7928 | pathogenic | -0.072 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| G/P | 0.9974 | likely_pathogenic | 0.9932 | pathogenic | -0.205 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| G/Q | 0.96 | likely_pathogenic | 0.8738 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| G/R | 0.946 | likely_pathogenic | 0.8254 | pathogenic | -0.039 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.497410575 | None | None | N |
| G/S | 0.7443 | likely_pathogenic | 0.4645 | ambiguous | -0.253 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | N | 0.496712558 | None | None | N |
| G/T | 0.9421 | likely_pathogenic | 0.8409 | pathogenic | -0.325 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| G/V | 0.9664 | likely_pathogenic | 0.903 | pathogenic | -0.205 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.547888679 | None | None | N |
| G/W | 0.9754 | likely_pathogenic | 0.9399 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| G/Y | 0.9752 | likely_pathogenic | 0.9172 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.769 | 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.