Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16444 | 49555;49556;49557 | chr2:178614067;178614066;178614065 | chr2:179478794;179478793;179478792 |
| N2AB | 14803 | 44632;44633;44634 | chr2:178614067;178614066;178614065 | chr2:179478794;179478793;179478792 |
| N2A | 13876 | 41851;41852;41853 | chr2:178614067;178614066;178614065 | chr2:179478794;179478793;179478792 |
| N2B | 7379 | 22360;22361;22362 | chr2:178614067;178614066;178614065 | chr2:179478794;179478793;179478792 |
| Novex-1 | 7504 | 22735;22736;22737 | chr2:178614067;178614066;178614065 | chr2:179478794;179478793;179478792 |
| Novex-2 | 7571 | 22936;22937;22938 | chr2:178614067;178614066;178614065 | chr2:179478794;179478793;179478792 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1376559145  |
None | 1.0 | N | 0.757 | 0.273 | 0.393159880135 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7555 | likely_pathogenic | 0.6773 | pathogenic | -2.029 | Highly Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| A/D | 0.9989 | likely_pathogenic | 0.9976 | pathogenic | -3.259 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.675835533 | None | None | N |
| A/E | 0.9961 | likely_pathogenic | 0.9923 | pathogenic | -3.093 | Highly Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| A/F | 0.9676 | likely_pathogenic | 0.9413 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| A/G | 0.7207 | likely_pathogenic | 0.641 | pathogenic | -1.897 | Destabilizing | 0.999 | D | 0.584 | neutral | D | 0.636070657 | None | None | N |
| A/H | 0.9977 | likely_pathogenic | 0.9956 | pathogenic | -1.881 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| A/I | 0.6497 | likely_pathogenic | 0.5041 | ambiguous | -0.509 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| A/K | 0.9986 | likely_pathogenic | 0.9971 | pathogenic | -1.592 | Destabilizing | 1.0 | D | 0.735 | deleterious | None | None | None | None | N |
| A/L | 0.6957 | likely_pathogenic | 0.5762 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| A/M | 0.8194 | likely_pathogenic | 0.726 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| A/N | 0.9914 | likely_pathogenic | 0.983 | pathogenic | -2.015 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/P | 0.8952 | likely_pathogenic | 0.8419 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.531790368 | None | None | N |
| A/Q | 0.9883 | likely_pathogenic | 0.9811 | pathogenic | -1.904 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/R | 0.9938 | likely_pathogenic | 0.989 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| A/S | 0.4986 | ambiguous | 0.4297 | ambiguous | -2.298 | Highly Destabilizing | 0.999 | D | 0.639 | neutral | D | 0.595423322 | None | None | N |
| A/T | 0.6746 | likely_pathogenic | 0.5771 | pathogenic | -2.033 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.475619714 | None | None | N |
| A/V | 0.3952 | ambiguous | 0.2728 | benign | -0.81 | Destabilizing | 0.999 | D | 0.691 | prob.delet. | N | 0.457644723 | None | None | N |
| A/W | 0.9985 | likely_pathogenic | 0.997 | pathogenic | -1.523 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| A/Y | 0.9948 | likely_pathogenic | 0.9889 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.815 | 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.