Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6224 | 18895;18896;18897 | chr2:178729486;178729485;178729484 | chr2:179594213;179594212;179594211 |
| N2AB | 5907 | 17944;17945;17946 | chr2:178729486;178729485;178729484 | chr2:179594213;179594212;179594211 |
| N2A | 4980 | 15163;15164;15165 | chr2:178729486;178729485;178729484 | chr2:179594213;179594212;179594211 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/E | rs1168353457  |
-0.565 | 1.0 | D | 0.777 | 0.7 | 0.800560755456 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 8.9E-06 | 0 |
| G/E | rs1168353457 |
-0.565 | 1.0 | D | 0.777 | 0.7 | 0.800560755456 | gnomAD-4.0.0 | 1.59173E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85927E-06 | 0 | 0 |
| G/R | rs2154307306 |
None | 1.0 | D | 0.778 | 0.715 | 0.859625135514 | gnomAD-4.0.0 | 1.59172E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85925E-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 | 0.5852 | likely_pathogenic | 0.679 | pathogenic | -0.335 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.566483093 | None | None | I |
| G/C | 0.944 | likely_pathogenic | 0.9599 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| G/D | 0.9752 | likely_pathogenic | 0.9837 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/E | 0.9803 | likely_pathogenic | 0.9857 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.616005603 | None | None | I |
| G/F | 0.992 | likely_pathogenic | 0.9943 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| G/H | 0.9929 | likely_pathogenic | 0.9959 | pathogenic | -0.723 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | I |
| G/I | 0.9782 | likely_pathogenic | 0.9856 | pathogenic | -0.211 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | I |
| G/K | 0.9918 | likely_pathogenic | 0.9944 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/L | 0.9828 | likely_pathogenic | 0.9887 | pathogenic | -0.211 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| G/M | 0.9884 | likely_pathogenic | 0.9926 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | I |
| G/N | 0.9805 | likely_pathogenic | 0.9895 | pathogenic | -0.63 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/P | 0.9933 | likely_pathogenic | 0.9967 | pathogenic | -0.213 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/Q | 0.9859 | likely_pathogenic | 0.9903 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/R | 0.9734 | likely_pathogenic | 0.9795 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.614530457 | None | None | I |
| G/S | 0.6646 | likely_pathogenic | 0.7571 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/T | 0.9288 | likely_pathogenic | 0.9542 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/V | 0.9455 | likely_pathogenic | 0.9617 | pathogenic | -0.213 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.635889605 | None | None | I |
| G/W | 0.9832 | likely_pathogenic | 0.9879 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9892 | likely_pathogenic | 0.9934 | pathogenic | -0.695 | Destabilizing | 1.0 | D | 0.724 | 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.