Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17321 | 52186;52187;52188 | chr2:178609349;178609348;178609347 | chr2:179474076;179474075;179474074 |
| N2AB | 15680 | 47263;47264;47265 | chr2:178609349;178609348;178609347 | chr2:179474076;179474075;179474074 |
| N2A | 14753 | 44482;44483;44484 | chr2:178609349;178609348;178609347 | chr2:179474076;179474075;179474074 |
| N2B | 8256 | 24991;24992;24993 | chr2:178609349;178609348;178609347 | chr2:179474076;179474075;179474074 |
| Novex-1 | 8381 | 25366;25367;25368 | chr2:178609349;178609348;178609347 | chr2:179474076;179474075;179474074 |
| Novex-2 | 8448 | 25567;25568;25569 | chr2:178609349;178609348;178609347 | chr2:179474076;179474075;179474074 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs752764827  |
-1.605 | 1.0 | N | 0.872 | 0.421 | None | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.7E-05 | 0 |
| R/C | rs752764827 |
-1.605 | 1.0 | N | 0.872 | 0.421 | None | gnomAD-3.1.2 | 1.98E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.95E-05 | 0 | 0 |
| R/C | rs752764827 |
-1.605 | 1.0 | N | 0.872 | 0.421 | None | gnomAD-4.0.0 | 3.59848E-05 | None | None | None | None | N | None | 2.67537E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49589E-05 | 0 | 4.81093E-05 |
| R/H | rs530304166 |
-2.067 | 1.0 | N | 0.809 | 0.384 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 1.78E-05 | 0 |
| R/H | rs530304166 |
-2.067 | 1.0 | N | 0.809 | 0.384 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/H | rs530304166 |
-2.067 | 1.0 | N | 0.809 | 0.384 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| R/H | rs530304166 |
-2.067 | 1.0 | N | 0.809 | 0.384 | None | gnomAD-4.0.0 | 2.10923E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.24316E-05 | None | 0 | 0 | 2.71449E-05 | 1.09994E-05 | 0 |
| R/S | rs752764827 |
-1.086 | 1.0 | N | 0.793 | 0.452 | 0.345405024496 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| R/S | rs752764827 |
-1.086 | 1.0 | N | 0.793 | 0.452 | 0.345405024496 | gnomAD-4.0.0 | 6.84965E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00131E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9794 | likely_pathogenic | 0.9851 | pathogenic | -1.691 | Destabilizing | 0.999 | D | 0.628 | neutral | None | None | None | None | N |
| R/C | 0.8719 | likely_pathogenic | 0.8783 | pathogenic | -1.737 | Destabilizing | 1.0 | D | 0.872 | deleterious | N | 0.506519976 | None | None | N |
| R/D | 0.9799 | likely_pathogenic | 0.9842 | pathogenic | -0.604 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| R/E | 0.9252 | likely_pathogenic | 0.9358 | pathogenic | -0.414 | Destabilizing | 0.999 | D | 0.648 | neutral | None | None | None | None | N |
| R/F | 0.9839 | likely_pathogenic | 0.9874 | pathogenic | -1.143 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| R/G | 0.9514 | likely_pathogenic | 0.9617 | pathogenic | -2.037 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.493389243 | None | None | N |
| R/H | 0.6481 | likely_pathogenic | 0.6722 | pathogenic | -1.957 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.469044018 | None | None | N |
| R/I | 0.9273 | likely_pathogenic | 0.9385 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| R/K | 0.6986 | likely_pathogenic | 0.7425 | pathogenic | -1.377 | Destabilizing | 0.998 | D | 0.537 | neutral | None | None | None | None | N |
| R/L | 0.9023 | likely_pathogenic | 0.9175 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.487148273 | None | None | N |
| R/M | 0.966 | likely_pathogenic | 0.9719 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| R/N | 0.9524 | likely_pathogenic | 0.9611 | pathogenic | -1.111 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| R/P | 0.9847 | likely_pathogenic | 0.9878 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.506012996 | None | None | N |
| R/Q | 0.702 | likely_pathogenic | 0.7393 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| R/S | 0.9837 | likely_pathogenic | 0.9877 | pathogenic | -2.045 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.467144687 | None | None | N |
| R/T | 0.968 | likely_pathogenic | 0.977 | pathogenic | -1.646 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| R/V | 0.9589 | likely_pathogenic | 0.9656 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| R/W | 0.8365 | likely_pathogenic | 0.854 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| R/Y | 0.9113 | likely_pathogenic | 0.9245 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.863 | 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.