Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24592 | 73999;74000;74001 | chr2:178572358;178572357;178572356 | chr2:179437085;179437084;179437083 |
| N2AB | 22951 | 69076;69077;69078 | chr2:178572358;178572357;178572356 | chr2:179437085;179437084;179437083 |
| N2A | 22024 | 66295;66296;66297 | chr2:178572358;178572357;178572356 | chr2:179437085;179437084;179437083 |
| N2B | 15527 | 46804;46805;46806 | chr2:178572358;178572357;178572356 | chr2:179437085;179437084;179437083 |
| Novex-1 | 15652 | 47179;47180;47181 | chr2:178572358;178572357;178572356 | chr2:179437085;179437084;179437083 |
| Novex-2 | 15719 | 47380;47381;47382 | chr2:178572358;178572357;178572356 | chr2:179437085;179437084;179437083 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | rs1381595456  |
-1.411 | 0.995 | N | 0.656 | 0.515 | 0.639293935697 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| R/K | rs1381595456 |
-1.411 | 0.995 | N | 0.656 | 0.515 | 0.639293935697 | gnomAD-4.0.0 | 6.84789E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00213E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9939 | likely_pathogenic | 0.9882 | pathogenic | -1.642 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| R/C | 0.8613 | likely_pathogenic | 0.7396 | pathogenic | -1.656 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| R/D | 0.9991 | likely_pathogenic | 0.9985 | pathogenic | -0.789 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| R/E | 0.9871 | likely_pathogenic | 0.9779 | pathogenic | -0.574 | Destabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | N |
| R/F | 0.9983 | likely_pathogenic | 0.9961 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| R/G | 0.9918 | likely_pathogenic | 0.9835 | pathogenic | -2.002 | Highly Destabilizing | 1.0 | D | 0.718 | prob.delet. | D | 0.564682125 | None | None | N |
| R/H | 0.7632 | likely_pathogenic | 0.6358 | pathogenic | -1.855 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| R/I | 0.9914 | likely_pathogenic | 0.9797 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| R/K | 0.7262 | likely_pathogenic | 0.6344 | pathogenic | -1.262 | Destabilizing | 0.995 | D | 0.656 | neutral | N | 0.509555985 | None | None | N |
| R/L | 0.9791 | likely_pathogenic | 0.9529 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| R/M | 0.9927 | likely_pathogenic | 0.9804 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.53531047 | None | None | N |
| R/N | 0.9966 | likely_pathogenic | 0.9937 | pathogenic | -1.241 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| R/P | 0.9998 | likely_pathogenic | 0.9993 | pathogenic | -0.94 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| R/Q | 0.7248 | likely_pathogenic | 0.5727 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| R/S | 0.994 | likely_pathogenic | 0.9889 | pathogenic | -2.06 | Highly Destabilizing | 1.0 | D | 0.72 | prob.delet. | N | 0.516784461 | None | None | N |
| R/T | 0.9934 | likely_pathogenic | 0.9843 | pathogenic | -1.634 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | N | 0.510467811 | None | None | N |
| R/V | 0.9911 | likely_pathogenic | 0.9806 | pathogenic | -0.94 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| R/W | 0.9639 | likely_pathogenic | 0.9134 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.54683136 | None | None | N |
| R/Y | 0.9918 | likely_pathogenic | 0.9832 | pathogenic | -0.208 | Destabilizing | 1.0 | D | 0.831 | 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.