Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26404 | 79435;79436;79437 | chr2:178566922;178566921;178566920 | chr2:179431649;179431648;179431647 |
| N2AB | 24763 | 74512;74513;74514 | chr2:178566922;178566921;178566920 | chr2:179431649;179431648;179431647 |
| N2A | 23836 | 71731;71732;71733 | chr2:178566922;178566921;178566920 | chr2:179431649;179431648;179431647 |
| N2B | 17339 | 52240;52241;52242 | chr2:178566922;178566921;178566920 | chr2:179431649;179431648;179431647 |
| Novex-1 | 17464 | 52615;52616;52617 | chr2:178566922;178566921;178566920 | chr2:179431649;179431648;179431647 |
| Novex-2 | 17531 | 52816;52817;52818 | chr2:178566922;178566921;178566920 | chr2:179431649;179431648;179431647 |
| 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 | rs786205300  |
0.179 | 1.0 | D | 0.788 | 0.445 | 0.482792760554 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| T/I | rs786205300 |
0.179 | 1.0 | D | 0.788 | 0.445 | 0.482792760554 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs786205300 |
0.179 | 1.0 | D | 0.788 | 0.445 | 0.482792760554 | gnomAD-4.0.0 | 1.8594E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54308E-06 | 0 | 0 |
| T/N | None | -1.539 | 1.0 | N | 0.68 | 0.442 | 0.455173453901 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/N | None | -1.539 | 1.0 | N | 0.68 | 0.442 | 0.455173453901 | gnomAD-4.0.0 | 1.36857E-06 | None | None | None | None | N | None | 0 | 2.23684E-05 | None | 0 | 0 | None | 0 | 0 | 8.99548E-07 | 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 | 0.4936 | ambiguous | 0.4606 | ambiguous | -0.713 | Destabilizing | 0.999 | D | 0.524 | neutral | N | 0.486652337 | None | None | N |
| T/C | 0.9046 | likely_pathogenic | 0.8941 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| T/D | 0.9758 | likely_pathogenic | 0.9738 | pathogenic | -1.793 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| T/E | 0.9644 | likely_pathogenic | 0.9593 | pathogenic | -1.702 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| T/F | 0.8464 | likely_pathogenic | 0.8469 | pathogenic | -0.641 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| T/G | 0.8965 | likely_pathogenic | 0.8984 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| T/H | 0.9156 | likely_pathogenic | 0.9181 | pathogenic | -1.399 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| T/I | 0.3942 | ambiguous | 0.3911 | ambiguous | 0.096 | Stabilizing | 1.0 | D | 0.788 | deleterious | D | 0.522580687 | None | None | N |
| T/K | 0.959 | likely_pathogenic | 0.9605 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| T/L | 0.372 | ambiguous | 0.3822 | ambiguous | 0.096 | Stabilizing | 0.999 | D | 0.672 | neutral | None | None | None | None | N |
| T/M | 0.2199 | likely_benign | 0.2093 | benign | 0.28 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| T/N | 0.703 | likely_pathogenic | 0.7081 | pathogenic | -1.404 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | N | 0.488551668 | None | None | N |
| T/P | 0.9465 | likely_pathogenic | 0.9566 | pathogenic | -0.141 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.533015838 | None | None | N |
| T/Q | 0.9099 | likely_pathogenic | 0.9087 | pathogenic | -1.45 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| T/R | 0.9475 | likely_pathogenic | 0.9521 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| T/S | 0.5763 | likely_pathogenic | 0.5693 | pathogenic | -1.441 | Destabilizing | 0.999 | D | 0.509 | neutral | N | 0.477711887 | None | None | N |
| T/V | 0.2586 | likely_benign | 0.243 | benign | -0.141 | Destabilizing | 0.999 | D | 0.559 | neutral | None | None | None | None | N |
| T/W | 0.9631 | likely_pathogenic | 0.9681 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| T/Y | 0.8877 | likely_pathogenic | 0.8992 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.848 | 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.