Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19104 | 57535;57536;57537 | chr2:178597772;178597771;178597770 | chr2:179462499;179462498;179462497 |
| N2AB | 17463 | 52612;52613;52614 | chr2:178597772;178597771;178597770 | chr2:179462499;179462498;179462497 |
| N2A | 16536 | 49831;49832;49833 | chr2:178597772;178597771;178597770 | chr2:179462499;179462498;179462497 |
| N2B | 10039 | 30340;30341;30342 | chr2:178597772;178597771;178597770 | chr2:179462499;179462498;179462497 |
| Novex-1 | 10164 | 30715;30716;30717 | chr2:178597772;178597771;178597770 | chr2:179462499;179462498;179462497 |
| Novex-2 | 10231 | 30916;30917;30918 | chr2:178597772;178597771;178597770 | chr2:179462499;179462498;179462497 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs776210519  |
-1.915 | 0.999 | N | 0.506 | 0.638 | 0.816439466794 | gnomAD-2.1.1 | 6.38E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.29702E-04 | 0 |
| V/A | rs776210519 |
-1.915 | 0.999 | N | 0.506 | 0.638 | 0.816439466794 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| V/A | rs776210519 |
-1.915 | 0.999 | N | 0.506 | 0.638 | 0.816439466794 | gnomAD-4.0.0 | 6.41024E-06 | None | None | None | None | I | None | 3.38352E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.18308E-06 | 0 | 0 |
| V/D | rs776210519 |
-1.911 | 1.0 | D | 0.723 | 0.834 | 0.860407132683 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/D | rs776210519 |
-1.911 | 1.0 | D | 0.723 | 0.834 | 0.860407132683 | gnomAD-4.0.0 | 1.59257E-06 | None | None | None | None | I | None | 0 | 2.28948E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7451 | likely_pathogenic | 0.8385 | pathogenic | -1.786 | Destabilizing | 0.999 | D | 0.506 | neutral | N | 0.493978578 | None | None | I |
| V/C | 0.8946 | likely_pathogenic | 0.9208 | pathogenic | -1.148 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | I |
| V/D | 0.9909 | likely_pathogenic | 0.9944 | pathogenic | -1.808 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.545145153 | None | None | I |
| V/E | 0.9661 | likely_pathogenic | 0.9774 | pathogenic | -1.746 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | I |
| V/F | 0.7057 | likely_pathogenic | 0.7811 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | D | 0.526280429 | None | None | I |
| V/G | 0.8644 | likely_pathogenic | 0.9061 | pathogenic | -2.184 | Highly Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.515177613 | None | None | I |
| V/H | 0.9843 | likely_pathogenic | 0.9886 | pathogenic | -1.83 | Destabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | I |
| V/I | 0.116 | likely_benign | 0.1387 | benign | -0.753 | Destabilizing | 0.997 | D | 0.485 | neutral | N | 0.519498388 | None | None | I |
| V/K | 0.9605 | likely_pathogenic | 0.9725 | pathogenic | -1.555 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | I |
| V/L | 0.6667 | likely_pathogenic | 0.783 | pathogenic | -0.753 | Destabilizing | 0.997 | D | 0.519 | neutral | N | 0.49971625 | None | None | I |
| V/M | 0.5971 | likely_pathogenic | 0.7528 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | I |
| V/N | 0.9699 | likely_pathogenic | 0.9794 | pathogenic | -1.412 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| V/P | 0.9938 | likely_pathogenic | 0.9954 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | I |
| V/Q | 0.9347 | likely_pathogenic | 0.9537 | pathogenic | -1.493 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | I |
| V/R | 0.9368 | likely_pathogenic | 0.9511 | pathogenic | -1.11 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | I |
| V/S | 0.8941 | likely_pathogenic | 0.9267 | pathogenic | -1.972 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| V/T | 0.7364 | likely_pathogenic | 0.8099 | pathogenic | -1.793 | Destabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | I |
| V/W | 0.9928 | likely_pathogenic | 0.9949 | pathogenic | -1.573 | Destabilizing | 1.0 | D | 0.632 | neutral | None | None | None | None | I |
| V/Y | 0.9677 | likely_pathogenic | 0.9721 | pathogenic | -1.267 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | 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.