Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18258 | 54997;54998;54999 | chr2:178603915;178603914;178603913 | chr2:179468642;179468641;179468640 |
| N2AB | 16617 | 50074;50075;50076 | chr2:178603915;178603914;178603913 | chr2:179468642;179468641;179468640 |
| N2A | 15690 | 47293;47294;47295 | chr2:178603915;178603914;178603913 | chr2:179468642;179468641;179468640 |
| N2B | 9193 | 27802;27803;27804 | chr2:178603915;178603914;178603913 | chr2:179468642;179468641;179468640 |
| Novex-1 | 9318 | 28177;28178;28179 | chr2:178603915;178603914;178603913 | chr2:179468642;179468641;179468640 |
| Novex-2 | 9385 | 28378;28379;28380 | chr2:178603915;178603914;178603913 | chr2:179468642;179468641;179468640 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | None | None | 0.999 | D | 0.889 | 0.57 | 0.503498835695 | gnomAD-4.0.0 | 6.85289E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00726E-07 | 0 | 0 |
| S/T | rs770198717  |
-0.981 | 0.999 | N | 0.885 | 0.538 | 0.440915056915 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.62E-05 | None | 0 | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.4329 | ambiguous | 0.4666 | ambiguous | -0.633 | Destabilizing | 0.998 | D | 0.836 | deleterious | None | None | None | None | N |
| S/C | 0.5135 | ambiguous | 0.6011 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.537432471 | None | None | N |
| S/D | 0.9904 | likely_pathogenic | 0.989 | pathogenic | -1.441 | Destabilizing | 0.999 | D | 0.883 | deleterious | None | None | None | None | N |
| S/E | 0.9943 | likely_pathogenic | 0.9931 | pathogenic | -1.336 | Destabilizing | 0.999 | D | 0.886 | deleterious | None | None | None | None | N |
| S/F | 0.9948 | likely_pathogenic | 0.9934 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| S/G | 0.3534 | ambiguous | 0.4106 | ambiguous | -0.977 | Destabilizing | 0.999 | D | 0.88 | deleterious | N | 0.510565576 | None | None | N |
| S/H | 0.9917 | likely_pathogenic | 0.9901 | pathogenic | -1.475 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| S/I | 0.9879 | likely_pathogenic | 0.9849 | pathogenic | 0.206 | Stabilizing | 1.0 | D | 0.885 | deleterious | D | 0.536925492 | None | None | N |
| S/K | 0.999 | likely_pathogenic | 0.999 | pathogenic | -0.954 | Destabilizing | 0.999 | D | 0.88 | deleterious | None | None | None | None | N |
| S/L | 0.9226 | likely_pathogenic | 0.9165 | pathogenic | 0.206 | Stabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| S/M | 0.9669 | likely_pathogenic | 0.9642 | pathogenic | 0.244 | Stabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| S/N | 0.9673 | likely_pathogenic | 0.9665 | pathogenic | -1.283 | Destabilizing | 0.999 | D | 0.889 | deleterious | D | 0.554776257 | None | None | N |
| S/P | 0.9917 | likely_pathogenic | 0.9883 | pathogenic | -0.038 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| S/Q | 0.9915 | likely_pathogenic | 0.9913 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| S/R | 0.997 | likely_pathogenic | 0.997 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.542494899 | None | None | N |
| S/T | 0.6244 | likely_pathogenic | 0.5722 | pathogenic | -0.998 | Destabilizing | 0.999 | D | 0.885 | deleterious | N | 0.509943239 | None | None | N |
| S/V | 0.9654 | likely_pathogenic | 0.9559 | pathogenic | -0.038 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| S/W | 0.9939 | likely_pathogenic | 0.9915 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| S/Y | 0.9934 | likely_pathogenic | 0.9919 | pathogenic | -0.253 | Destabilizing | 1.0 | D | 0.902 | 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.