Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35778 | 107557;107558;107559 | chr2:178528319;178528318;178528317 | chr2:179393046;179393045;179393044 |
| N2AB | 34137 | 102634;102635;102636 | chr2:178528319;178528318;178528317 | chr2:179393046;179393045;179393044 |
| N2A | 33210 | 99853;99854;99855 | chr2:178528319;178528318;178528317 | chr2:179393046;179393045;179393044 |
| N2B | 26713 | 80362;80363;80364 | chr2:178528319;178528318;178528317 | chr2:179393046;179393045;179393044 |
| Novex-1 | 26838 | 80737;80738;80739 | chr2:178528319;178528318;178528317 | chr2:179393046;179393045;179393044 |
| Novex-2 | 26905 | 80938;80939;80940 | chr2:178528319;178528318;178528317 | chr2:179393046;179393045;179393044 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/T | rs1304770151  |
-0.802 | 0.999 | N | 0.689 | 0.698 | 0.36893422563 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.989 | likely_pathogenic | 0.9897 | pathogenic | -1.08 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| N/C | 0.9794 | likely_pathogenic | 0.9827 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| N/D | 0.9204 | likely_pathogenic | 0.9283 | pathogenic | -1.395 | Destabilizing | 0.999 | D | 0.616 | neutral | D | 0.535142205 | None | None | N |
| N/E | 0.9955 | likely_pathogenic | 0.995 | pathogenic | -1.216 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | None | N |
| N/F | 0.9976 | likely_pathogenic | 0.9974 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| N/G | 0.9692 | likely_pathogenic | 0.9715 | pathogenic | -1.473 | Destabilizing | 0.999 | D | 0.566 | neutral | None | None | None | None | N |
| N/H | 0.942 | likely_pathogenic | 0.9443 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.554513908 | None | None | N |
| N/I | 0.9802 | likely_pathogenic | 0.9794 | pathogenic | -0.041 | Destabilizing | 1.0 | D | 0.752 | deleterious | D | 0.543246508 | None | None | N |
| N/K | 0.9947 | likely_pathogenic | 0.9945 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | D | 0.542486039 | None | None | N |
| N/L | 0.9761 | likely_pathogenic | 0.9748 | pathogenic | -0.041 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| N/M | 0.9889 | likely_pathogenic | 0.9883 | pathogenic | 0.345 | Stabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| N/P | 0.9965 | likely_pathogenic | 0.996 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| N/Q | 0.9957 | likely_pathogenic | 0.9956 | pathogenic | -1.042 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| N/R | 0.9946 | likely_pathogenic | 0.9943 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| N/S | 0.7893 | likely_pathogenic | 0.8086 | pathogenic | -1.246 | Destabilizing | 0.999 | D | 0.589 | neutral | N | 0.497919737 | None | None | N |
| N/T | 0.9043 | likely_pathogenic | 0.9061 | pathogenic | -0.875 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | N | 0.521406043 | None | None | N |
| N/V | 0.9826 | likely_pathogenic | 0.9827 | pathogenic | -0.358 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| N/W | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| N/Y | 0.9605 | likely_pathogenic | 0.9628 | pathogenic | -0.166 | Destabilizing | 1.0 | D | 0.766 | deleterious | D | 0.542993018 | 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.