Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33782 | 101569;101570;101571 | chr2:178535271;178535270;178535269 | chr2:179399998;179399997;179399996 |
| N2AB | 32141 | 96646;96647;96648 | chr2:178535271;178535270;178535269 | chr2:179399998;179399997;179399996 |
| N2A | 31214 | 93865;93866;93867 | chr2:178535271;178535270;178535269 | chr2:179399998;179399997;179399996 |
| N2B | 24717 | 74374;74375;74376 | chr2:178535271;178535270;178535269 | chr2:179399998;179399997;179399996 |
| Novex-1 | 24842 | 74749;74750;74751 | chr2:178535271;178535270;178535269 | chr2:179399998;179399997;179399996 |
| Novex-2 | 24909 | 74950;74951;74952 | chr2:178535271;178535270;178535269 | chr2:179399998;179399997;179399996 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs771566432  |
-0.253 | 1.0 | N | 0.786 | 0.377 | None | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs771566432 |
-0.253 | 1.0 | N | 0.786 | 0.377 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.25E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs771566432 |
-0.253 | 1.0 | N | 0.786 | 0.377 | None | gnomAD-4.0.0 | 4.33779E-06 | None | None | None | None | N | None | 9.34854E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs771566432 |
-1.606 | 0.976 | N | 0.573 | 0.204 | 0.219573609325 | gnomAD-4.0.0 | 6.84174E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51902E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.425 | ambiguous | 0.4116 | ambiguous | -1.017 | Destabilizing | 0.991 | D | 0.548 | neutral | N | 0.451277949 | None | None | N |
| T/C | 0.7412 | likely_pathogenic | 0.7435 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| T/D | 0.994 | likely_pathogenic | 0.9926 | pathogenic | -2.417 | Highly Destabilizing | 0.998 | D | 0.731 | deleterious | None | None | None | None | N |
| T/E | 0.9889 | likely_pathogenic | 0.9872 | pathogenic | -2.273 | Highly Destabilizing | 1.0 | D | 0.733 | deleterious | None | None | None | None | N |
| T/F | 0.9726 | likely_pathogenic | 0.9653 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| T/G | 0.8548 | likely_pathogenic | 0.8502 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| T/H | 0.9792 | likely_pathogenic | 0.9782 | pathogenic | -1.473 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | N |
| T/I | 0.8705 | likely_pathogenic | 0.8515 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.786 | deleterious | N | 0.452491457 | None | None | N |
| T/K | 0.9738 | likely_pathogenic | 0.9724 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.729 | deleterious | None | None | None | None | N |
| T/L | 0.6173 | likely_pathogenic | 0.5923 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.731 | deleterious | None | None | None | None | N |
| T/M | 0.608 | likely_pathogenic | 0.5636 | ambiguous | -0.429 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| T/N | 0.9141 | likely_pathogenic | 0.9096 | pathogenic | -1.443 | Destabilizing | 0.998 | D | 0.658 | prob.neutral | N | 0.453358249 | None | None | N |
| T/P | 0.6975 | likely_pathogenic | 0.7525 | pathogenic | -0.529 | Destabilizing | 0.998 | D | 0.792 | deleterious | N | 0.451798024 | None | None | N |
| T/Q | 0.9578 | likely_pathogenic | 0.9563 | pathogenic | -1.448 | Destabilizing | 0.999 | D | 0.794 | deleterious | None | None | None | None | N |
| T/R | 0.9512 | likely_pathogenic | 0.9512 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| T/S | 0.6498 | likely_pathogenic | 0.6269 | pathogenic | -1.447 | Destabilizing | 0.976 | D | 0.573 | neutral | N | 0.452664815 | None | None | N |
| T/V | 0.6421 | likely_pathogenic | 0.6353 | pathogenic | -0.529 | Destabilizing | 0.999 | D | 0.579 | neutral | None | None | None | None | N |
| T/W | 0.9961 | likely_pathogenic | 0.9954 | pathogenic | -1.304 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| T/Y | 0.9897 | likely_pathogenic | 0.9885 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.816 | 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.