Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33226 | 99901;99902;99903 | chr2:178537531;178537530;178537529 | chr2:179402258;179402257;179402256 |
| N2AB | 31585 | 94978;94979;94980 | chr2:178537531;178537530;178537529 | chr2:179402258;179402257;179402256 |
| N2A | 30658 | 92197;92198;92199 | chr2:178537531;178537530;178537529 | chr2:179402258;179402257;179402256 |
| N2B | 24161 | 72706;72707;72708 | chr2:178537531;178537530;178537529 | chr2:179402258;179402257;179402256 |
| Novex-1 | 24286 | 73081;73082;73083 | chr2:178537531;178537530;178537529 | chr2:179402258;179402257;179402256 |
| Novex-2 | 24353 | 73282;73283;73284 | chr2:178537531;178537530;178537529 | chr2:179402258;179402257;179402256 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | None | None | 1.0 | D | 0.785 | 0.709 | 0.67965922819 | gnomAD-4.0.0 | 1.59142E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77362E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6736 | likely_pathogenic | 0.6831 | pathogenic | -1.77 | Destabilizing | 1.0 | D | 0.76 | deleterious | D | 0.530941692 | None | None | N |
| P/C | 0.9817 | likely_pathogenic | 0.9829 | pathogenic | -1.352 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| P/D | 0.9979 | likely_pathogenic | 0.9982 | pathogenic | -1.478 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| P/E | 0.994 | likely_pathogenic | 0.9949 | pathogenic | -1.438 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/F | 0.9967 | likely_pathogenic | 0.9969 | pathogenic | -1.423 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| P/G | 0.9748 | likely_pathogenic | 0.9799 | pathogenic | -2.137 | Highly Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| P/H | 0.9936 | likely_pathogenic | 0.9946 | pathogenic | -1.666 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.532462629 | None | None | N |
| P/I | 0.9653 | likely_pathogenic | 0.9698 | pathogenic | -0.841 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| P/K | 0.9975 | likely_pathogenic | 0.9981 | pathogenic | -1.344 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| P/L | 0.8995 | likely_pathogenic | 0.9074 | pathogenic | -0.841 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.527392838 | None | None | N |
| P/M | 0.982 | likely_pathogenic | 0.9835 | pathogenic | -0.699 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| P/N | 0.9967 | likely_pathogenic | 0.997 | pathogenic | -1.237 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| P/Q | 0.9893 | likely_pathogenic | 0.9906 | pathogenic | -1.358 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/R | 0.9914 | likely_pathogenic | 0.9926 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.53195565 | None | None | N |
| P/S | 0.9638 | likely_pathogenic | 0.962 | pathogenic | -1.86 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.531448671 | None | None | N |
| P/T | 0.9386 | likely_pathogenic | 0.9431 | pathogenic | -1.693 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.531448671 | None | None | N |
| P/V | 0.9111 | likely_pathogenic | 0.9207 | pathogenic | -1.117 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| P/W | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -1.624 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| P/Y | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.755 | 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.