Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21721 | 65386;65387;65388 | chr2:178584390;178584389;178584388 | chr2:179449117;179449116;179449115 |
| N2AB | 20080 | 60463;60464;60465 | chr2:178584390;178584389;178584388 | chr2:179449117;179449116;179449115 |
| N2A | 19153 | 57682;57683;57684 | chr2:178584390;178584389;178584388 | chr2:179449117;179449116;179449115 |
| N2B | 12656 | 38191;38192;38193 | chr2:178584390;178584389;178584388 | chr2:179449117;179449116;179449115 |
| Novex-1 | 12781 | 38566;38567;38568 | chr2:178584390;178584389;178584388 | chr2:179449117;179449116;179449115 |
| Novex-2 | 12848 | 38767;38768;38769 | chr2:178584390;178584389;178584388 | chr2:179449117;179449116;179449115 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs745497694  |
-2.512 | 1.0 | N | 0.825 | 0.542 | 0.661252799969 | 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 |
| C/G | rs745497694 |
-2.512 | 1.0 | N | 0.825 | 0.542 | 0.661252799969 | gnomAD-4.0.0 | 6.84395E-07 | None | None | None | None | N | None | 0 | 2.23704E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | rs745497694 |
-1.166 | 1.0 | N | 0.856 | 0.622 | 0.619681665072 | gnomAD-2.1.1 | 4.65E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.1792E-04 | None | 0 | None | 0 | 7.84E-06 | 0 |
| C/R | rs745497694 |
-1.166 | 1.0 | N | 0.856 | 0.622 | 0.619681665072 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 7.76096E-04 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| C/R | rs745497694 |
-1.166 | 1.0 | N | 0.856 | 0.622 | 0.619681665072 | gnomAD-4.0.0 | 9.2981E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.00956E-04 | None | 0 | 0 | 4.23903E-06 | 0 | 1.60164E-05 |
| C/Y | rs778573828 |
-1.696 | 1.0 | N | 0.851 | 0.377 | 0.70098588726 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/Y | rs778573828 |
-1.696 | 1.0 | N | 0.851 | 0.377 | 0.70098588726 | gnomAD-4.0.0 | 1.5923E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43345E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.669 | likely_pathogenic | 0.6193 | pathogenic | -1.32 | Destabilizing | 0.998 | D | 0.643 | neutral | None | None | None | None | N |
| C/D | 0.9925 | likely_pathogenic | 0.9886 | pathogenic | -1.308 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| C/E | 0.9947 | likely_pathogenic | 0.9923 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| C/F | 0.7773 | likely_pathogenic | 0.7414 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.470684855 | None | None | N |
| C/G | 0.7763 | likely_pathogenic | 0.7207 | pathogenic | -1.692 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.476938192 | None | None | N |
| C/H | 0.9828 | likely_pathogenic | 0.9746 | pathogenic | -1.824 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| C/I | 0.6903 | likely_pathogenic | 0.6345 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| C/K | 0.9979 | likely_pathogenic | 0.9967 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| C/L | 0.7199 | likely_pathogenic | 0.6824 | pathogenic | -0.305 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | N |
| C/M | 0.8583 | likely_pathogenic | 0.8323 | pathogenic | 0.608 | Stabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| C/N | 0.9706 | likely_pathogenic | 0.9546 | pathogenic | -1.431 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| C/P | 0.994 | likely_pathogenic | 0.991 | pathogenic | -0.622 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| C/Q | 0.9869 | likely_pathogenic | 0.9816 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| C/R | 0.9849 | likely_pathogenic | 0.9782 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.856 | deleterious | N | 0.476938192 | None | None | N |
| C/S | 0.722 | likely_pathogenic | 0.6456 | pathogenic | -1.669 | Destabilizing | 1.0 | D | 0.748 | deleterious | N | 0.447176064 | None | None | N |
| C/T | 0.7816 | likely_pathogenic | 0.7233 | pathogenic | -1.212 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| C/V | 0.4596 | ambiguous | 0.409 | ambiguous | -0.622 | Destabilizing | 0.999 | D | 0.698 | prob.neutral | None | None | None | None | N |
| C/W | 0.9744 | likely_pathogenic | 0.9643 | pathogenic | -1.2 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.476938192 | None | None | N |
| C/Y | 0.9331 | likely_pathogenic | 0.9095 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.465328397 | 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.