Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31866 | 95821;95822;95823 | chr2:178545514;178545513;178545512 | chr2:179410241;179410240;179410239 |
| N2AB | 30225 | 90898;90899;90900 | chr2:178545514;178545513;178545512 | chr2:179410241;179410240;179410239 |
| N2A | 29298 | 88117;88118;88119 | chr2:178545514;178545513;178545512 | chr2:179410241;179410240;179410239 |
| N2B | 22801 | 68626;68627;68628 | chr2:178545514;178545513;178545512 | chr2:179410241;179410240;179410239 |
| Novex-1 | 22926 | 69001;69002;69003 | chr2:178545514;178545513;178545512 | chr2:179410241;179410240;179410239 |
| Novex-2 | 22993 | 69202;69203;69204 | chr2:178545514;178545513;178545512 | chr2:179410241;179410240;179410239 |
| 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/A | rs1559138864  |
-0.692 | 0.999 | N | 0.575 | 0.532 | 0.290222751274 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/A | rs1559138864 |
-0.692 | 0.999 | N | 0.575 | 0.532 | 0.290222751274 | gnomAD-4.0.0 | 3.1831E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86574E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1428 | likely_benign | 0.1219 | benign | -0.928 | Destabilizing | 0.999 | D | 0.575 | neutral | N | 0.480865439 | None | None | N |
| T/C | 0.3347 | likely_benign | 0.3186 | benign | -0.522 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| T/D | 0.6648 | likely_pathogenic | 0.5925 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| T/E | 0.5245 | ambiguous | 0.4704 | ambiguous | -0.369 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| T/F | 0.559 | ambiguous | 0.4612 | ambiguous | -0.698 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| T/G | 0.3663 | ambiguous | 0.3159 | benign | -1.305 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| T/H | 0.4628 | ambiguous | 0.406 | ambiguous | -1.317 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| T/I | 0.2869 | likely_benign | 0.2219 | benign | 0.036 | Stabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.491968255 | None | None | N |
| T/K | 0.3159 | likely_benign | 0.2907 | benign | -0.422 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| T/L | 0.0834 | likely_benign | 0.0802 | benign | 0.036 | Stabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| T/M | 0.1036 | likely_benign | 0.0967 | benign | 0.012 | Stabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| T/N | 0.1657 | likely_benign | 0.1525 | benign | -0.837 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.469913981 | None | None | N |
| T/P | 0.2509 | likely_benign | 0.1866 | benign | -0.253 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | N | 0.466533393 | None | None | N |
| T/Q | 0.3297 | likely_benign | 0.2983 | benign | -0.703 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| T/R | 0.2728 | likely_benign | 0.2463 | benign | -0.46 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| T/S | 0.181 | likely_benign | 0.1516 | benign | -1.168 | Destabilizing | 0.999 | D | 0.551 | neutral | N | 0.477636208 | None | None | N |
| T/V | 0.1922 | likely_benign | 0.1649 | benign | -0.253 | Destabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | N |
| T/W | 0.8587 | likely_pathogenic | 0.7927 | pathogenic | -0.768 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| T/Y | 0.5584 | ambiguous | 0.4852 | ambiguous | -0.428 | Destabilizing | 1.0 | D | 0.747 | 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.