Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20545 | 61858;61859;61860 | chr2:178590092;178590091;178590090 | chr2:179454819;179454818;179454817 |
| N2AB | 18904 | 56935;56936;56937 | chr2:178590092;178590091;178590090 | chr2:179454819;179454818;179454817 |
| N2A | 17977 | 54154;54155;54156 | chr2:178590092;178590091;178590090 | chr2:179454819;179454818;179454817 |
| N2B | 11480 | 34663;34664;34665 | chr2:178590092;178590091;178590090 | chr2:179454819;179454818;179454817 |
| Novex-1 | 11605 | 35038;35039;35040 | chr2:178590092;178590091;178590090 | chr2:179454819;179454818;179454817 |
| Novex-2 | 11672 | 35239;35240;35241 | chr2:178590092;178590091;178590090 | chr2:179454819;179454818;179454817 |
| 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/S | None | None | 1.0 | D | 0.826 | 0.734 | 0.601175442443 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 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 | 0.8347 | likely_pathogenic | 0.8637 | pathogenic | -0.706 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.564486487 | None | None | I |
| G/C | 0.9426 | likely_pathogenic | 0.9553 | pathogenic | -0.565 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.642997423 | None | None | I |
| G/D | 0.9788 | likely_pathogenic | 0.9813 | pathogenic | -1.453 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.642593815 | None | None | I |
| G/E | 0.9894 | likely_pathogenic | 0.9911 | pathogenic | -1.453 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/F | 0.9963 | likely_pathogenic | 0.9966 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/H | 0.9958 | likely_pathogenic | 0.9965 | pathogenic | -1.602 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| G/I | 0.9961 | likely_pathogenic | 0.9968 | pathogenic | -0.139 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/K | 0.9953 | likely_pathogenic | 0.9962 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/L | 0.9921 | likely_pathogenic | 0.9937 | pathogenic | -0.139 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/M | 0.9956 | likely_pathogenic | 0.9966 | pathogenic | 0.026 | Stabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/N | 0.9851 | likely_pathogenic | 0.989 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -0.286 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/Q | 0.9844 | likely_pathogenic | 0.9876 | pathogenic | -1.076 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/R | 0.9849 | likely_pathogenic | 0.9873 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.642795619 | None | None | I |
| G/S | 0.7847 | likely_pathogenic | 0.8315 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.626372649 | None | None | I |
| G/T | 0.9719 | likely_pathogenic | 0.9774 | pathogenic | -1.138 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| G/V | 0.9899 | likely_pathogenic | 0.992 | pathogenic | -0.286 | Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.642997423 | None | None | I |
| G/W | 0.9958 | likely_pathogenic | 0.9961 | pathogenic | -1.487 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/Y | 0.9968 | likely_pathogenic | 0.9972 | pathogenic | -1.001 | Destabilizing | 1.0 | D | 0.799 | 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.