Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22185 | 66778;66779;66780 | chr2:178581715;178581714;178581713 | chr2:179446442;179446441;179446440 |
| N2AB | 20544 | 61855;61856;61857 | chr2:178581715;178581714;178581713 | chr2:179446442;179446441;179446440 |
| N2A | 19617 | 59074;59075;59076 | chr2:178581715;178581714;178581713 | chr2:179446442;179446441;179446440 |
| N2B | 13120 | 39583;39584;39585 | chr2:178581715;178581714;178581713 | chr2:179446442;179446441;179446440 |
| Novex-1 | 13245 | 39958;39959;39960 | chr2:178581715;178581714;178581713 | chr2:179446442;179446441;179446440 |
| Novex-2 | 13312 | 40159;40160;40161 | chr2:178581715;178581714;178581713 | chr2:179446442;179446441;179446440 |
| 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 | rs560206502  |
-0.59 | 1.0 | N | 0.703 | 0.451 | 0.405150804464 | gnomAD-2.1.1 | 4.11E-06 | None | None | None | None | I | None | 0 | 2.95E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs560206502 |
-0.59 | 1.0 | N | 0.703 | 0.451 | 0.405150804464 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 2.41E-05 | 1.3113E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs560206502 |
-0.59 | 1.0 | N | 0.703 | 0.451 | 0.405150804464 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/S | rs560206502 |
-0.59 | 1.0 | N | 0.703 | 0.451 | 0.405150804464 | gnomAD-4.0.0 | 5.58748E-06 | None | None | None | None | I | None | 1.33426E-05 | 3.35323E-05 | None | 0 | 0 | None | 0 | 0 | 5.09181E-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 | 0.8254 | likely_pathogenic | 0.8804 | pathogenic | -0.279 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.499185001 | None | None | I |
| G/C | 0.8637 | likely_pathogenic | 0.9353 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.540206131 | None | None | I |
| G/D | 0.8706 | likely_pathogenic | 0.9407 | pathogenic | -0.212 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | N | 0.514998305 | None | None | I |
| G/E | 0.9465 | likely_pathogenic | 0.9736 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/F | 0.9829 | likely_pathogenic | 0.9879 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/H | 0.9578 | likely_pathogenic | 0.9806 | pathogenic | -0.455 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/I | 0.9785 | likely_pathogenic | 0.9839 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/K | 0.959 | likely_pathogenic | 0.981 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/L | 0.9693 | likely_pathogenic | 0.9782 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/M | 0.9803 | likely_pathogenic | 0.9873 | pathogenic | -0.501 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/N | 0.8692 | likely_pathogenic | 0.9262 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| G/P | 0.9974 | likely_pathogenic | 0.998 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/Q | 0.9368 | likely_pathogenic | 0.9693 | pathogenic | -0.598 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/R | 0.914 | likely_pathogenic | 0.9599 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.808 | deleterious | N | 0.506123988 | None | None | I |
| G/S | 0.6518 | likely_pathogenic | 0.7686 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.501324595 | None | None | I |
| G/T | 0.9347 | likely_pathogenic | 0.9561 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/V | 0.9643 | likely_pathogenic | 0.9756 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.540206131 | None | None | I |
| G/W | 0.971 | likely_pathogenic | 0.9861 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| G/Y | 0.9652 | likely_pathogenic | 0.9796 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
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.