Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20598 | 62017;62018;62019 | chr2:178589933;178589932;178589931 | chr2:179454660;179454659;179454658 |
| N2AB | 18957 | 57094;57095;57096 | chr2:178589933;178589932;178589931 | chr2:179454660;179454659;179454658 |
| N2A | 18030 | 54313;54314;54315 | chr2:178589933;178589932;178589931 | chr2:179454660;179454659;179454658 |
| N2B | 11533 | 34822;34823;34824 | chr2:178589933;178589932;178589931 | chr2:179454660;179454659;179454658 |
| Novex-1 | 11658 | 35197;35198;35199 | chr2:178589933;178589932;178589931 | chr2:179454660;179454659;179454658 |
| Novex-2 | 11725 | 35398;35399;35400 | chr2:178589933;178589932;178589931 | chr2:179454660;179454659;179454658 |
| 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/D | None | None | 1.0 | N | 0.716 | 0.511 | 0.459729313489 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.805 | 0.495 | 0.664811939827 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 6.17284E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8982 | likely_pathogenic | 0.9252 | pathogenic | -0.151 | Destabilizing | 1.0 | D | 0.625 | neutral | N | 0.495948409 | None | None | I |
| G/C | 0.9498 | likely_pathogenic | 0.9618 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.529007048 | None | None | I |
| G/D | 0.9793 | likely_pathogenic | 0.9859 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | N | 0.521409724 | None | None | I |
| G/E | 0.9865 | likely_pathogenic | 0.9913 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/F | 0.9865 | likely_pathogenic | 0.99 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/H | 0.993 | likely_pathogenic | 0.9951 | pathogenic | -0.266 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/I | 0.9837 | likely_pathogenic | 0.9891 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/K | 0.9932 | likely_pathogenic | 0.9952 | pathogenic | -0.41 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/L | 0.9858 | likely_pathogenic | 0.9897 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/M | 0.9908 | likely_pathogenic | 0.9936 | pathogenic | -0.505 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/N | 0.9733 | likely_pathogenic | 0.9824 | pathogenic | -0.179 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| G/P | 0.9981 | likely_pathogenic | 0.9987 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/Q | 0.9868 | likely_pathogenic | 0.9914 | pathogenic | -0.41 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/R | 0.9833 | likely_pathogenic | 0.9881 | pathogenic | -0.082 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.501748533 | None | None | I |
| G/S | 0.8653 | likely_pathogenic | 0.9096 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.487439259 | None | None | I |
| G/T | 0.9735 | likely_pathogenic | 0.9831 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/V | 0.9769 | likely_pathogenic | 0.9849 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.539513979 | None | None | I |
| G/W | 0.9886 | likely_pathogenic | 0.9904 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/Y | 0.9853 | likely_pathogenic | 0.989 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.788 | 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.