Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9975 | 30148;30149;30150 | chr2:178704549;178704548;178704547 | chr2:179569276;179569275;179569274 |
| N2AB | 9658 | 29197;29198;29199 | chr2:178704549;178704548;178704547 | chr2:179569276;179569275;179569274 |
| N2A | 8731 | 26416;26417;26418 | chr2:178704549;178704548;178704547 | chr2:179569276;179569275;179569274 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | None | None | 1.0 | None | 0.782 | 0.588 | 0.449379577644 | gnomAD-4.0.0 | 6.00161E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8956 | likely_pathogenic | 0.898 | pathogenic | -1.894 | Destabilizing | 0.998 | D | 0.614 | neutral | None | None | None | None | N |
| C/D | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| C/E | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| C/F | 0.9772 | likely_pathogenic | 0.9668 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| C/G | 0.935 | likely_pathogenic | 0.9253 | pathogenic | -2.271 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| C/H | 0.9987 | likely_pathogenic | 0.9981 | pathogenic | -2.257 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| C/I | 0.9779 | likely_pathogenic | 0.9737 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| C/K | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -1.451 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| C/L | 0.9653 | likely_pathogenic | 0.957 | pathogenic | -0.872 | Destabilizing | 0.999 | D | 0.648 | neutral | None | None | None | None | N |
| C/M | 0.9882 | likely_pathogenic | 0.9852 | pathogenic | 0.366 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| C/N | 0.998 | likely_pathogenic | 0.9974 | pathogenic | -1.952 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| C/P | 0.9997 | likely_pathogenic | 0.9994 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| C/Q | 0.9995 | likely_pathogenic | 0.9992 | pathogenic | -1.563 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| C/R | 0.9983 | likely_pathogenic | 0.9969 | pathogenic | -1.579 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| C/S | 0.9536 | likely_pathogenic | 0.9539 | pathogenic | -2.372 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| C/T | 0.9733 | likely_pathogenic | 0.973 | pathogenic | -1.96 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| C/V | 0.9223 | likely_pathogenic | 0.9193 | pathogenic | -1.189 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | N |
| C/W | 0.9977 | likely_pathogenic | 0.9962 | pathogenic | -1.325 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| C/Y | 0.9953 | likely_pathogenic | 0.9929 | pathogenic | -1.246 | Destabilizing | 1.0 | D | 0.789 | 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.