Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 964 | 3115;3116;3117 | chr2:178783016;178783015;178783014 | chr2:179647743;179647742;179647741 |
| N2AB | 964 | 3115;3116;3117 | chr2:178783016;178783015;178783014 | chr2:179647743;179647742;179647741 |
| N2A | 964 | 3115;3116;3117 | chr2:178783016;178783015;178783014 | chr2:179647743;179647742;179647741 |
| N2B | 918 | 2977;2978;2979 | chr2:178783016;178783015;178783014 | chr2:179647743;179647742;179647741 |
| Novex-1 | 918 | 2977;2978;2979 | chr2:178783016;178783015;178783014 | chr2:179647743;179647742;179647741 |
| Novex-2 | 918 | 2977;2978;2979 | chr2:178783016;178783015;178783014 | chr2:179647743;179647742;179647741 |
| Novex-3 | 964 | 3115;3116;3117 | chr2:178783016;178783015;178783014 | chr2:179647743;179647742;179647741 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/S | rs1195488045  |
-2.256 | 1.0 | D | 0.794 | 0.855 | 0.868789883015 | gnomAD-2.1.1 | 3.99E-06 | None | None | disulfide | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/S | rs1195488045 |
-2.256 | 1.0 | D | 0.794 | 0.855 | 0.868789883015 | gnomAD-4.0.0 | 1.59057E-06 | None | None | disulfide | None | N | None | 0 | 2.28624E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.9676 | likely_pathogenic | 0.9731 | pathogenic | -1.853 | Destabilizing | 0.998 | D | 0.734 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9994 | likely_pathogenic | 0.9997 | pathogenic | -1.779 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.576 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | disulfide | None | N |
| C/F | 0.9653 | likely_pathogenic | 0.9806 | pathogenic | -1.153 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.771105946 | disulfide | None | N |
| C/G | 0.9014 | likely_pathogenic | 0.9369 | pathogenic | -2.19 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.719104883 | disulfide | None | N |
| C/H | 0.999 | likely_pathogenic | 0.9995 | pathogenic | -2.395 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | disulfide | None | N |
| C/I | 0.9788 | likely_pathogenic | 0.9846 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.657 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | disulfide | None | N |
| C/L | 0.971 | likely_pathogenic | 0.98 | pathogenic | -0.947 | Destabilizing | 0.999 | D | 0.758 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9867 | likely_pathogenic | 0.9908 | pathogenic | -0.051 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9978 | likely_pathogenic | 0.9988 | pathogenic | -2.075 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.228 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9995 | likely_pathogenic | 0.9998 | pathogenic | -1.696 | Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9984 | likely_pathogenic | 0.9993 | pathogenic | -1.849 | Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.790992994 | disulfide | None | N |
| C/S | 0.9794 | likely_pathogenic | 0.9877 | pathogenic | -2.415 | Highly Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.771037677 | disulfide | None | N |
| C/T | 0.9819 | likely_pathogenic | 0.9864 | pathogenic | -2.046 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | disulfide | None | N |
| C/V | 0.9469 | likely_pathogenic | 0.9549 | pathogenic | -1.228 | Destabilizing | 0.999 | D | 0.766 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9965 | likely_pathogenic | 0.9987 | pathogenic | -1.542 | Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.824571589 | disulfide | None | N |
| C/Y | 0.9895 | likely_pathogenic | 0.9952 | pathogenic | -1.384 | Destabilizing | 1.0 | D | 0.91 | deleterious | D | 0.791296457 | disulfide | 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.