Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7735 | 23428;23429;23430 | chr2:178720559;178720558;178720557 | chr2:179585286;179585285;179585284 |
| N2AB | 7418 | 22477;22478;22479 | chr2:178720559;178720558;178720557 | chr2:179585286;179585285;179585284 |
| N2A | 6491 | 19696;19697;19698 | chr2:178720559;178720558;178720557 | chr2:179585286;179585285;179585284 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/G | None | None | 1.0 | D | 0.852 | 0.933 | 0.934736624955 | gnomAD-4.0.0 | 6.84367E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99614E-07 | 0 | 0 |
| W/S | rs1031182598  |
-3.077 | 1.0 | D | 0.88 | 0.901 | 0.972874527138 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| W/S | rs1031182598 |
-3.077 | 1.0 | D | 0.88 | 0.901 | 0.972874527138 | gnomAD-4.0.0 | 3.18447E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86681E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9957 | likely_pathogenic | 0.9954 | pathogenic | -3.298 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| W/C | 0.9983 | likely_pathogenic | 0.9982 | pathogenic | -2.003 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.719781307 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.628 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.516 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| W/F | 0.6418 | likely_pathogenic | 0.6387 | pathogenic | -2.074 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| W/G | 0.9886 | likely_pathogenic | 0.9884 | pathogenic | -3.535 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.719579503 | None | None | N |
| W/H | 0.9983 | likely_pathogenic | 0.9983 | pathogenic | -2.423 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| W/I | 0.9754 | likely_pathogenic | 0.975 | pathogenic | -2.379 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.8 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| W/L | 0.9302 | likely_pathogenic | 0.9303 | pathogenic | -2.379 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.67802203 | None | None | N |
| W/M | 0.9891 | likely_pathogenic | 0.9893 | pathogenic | -1.835 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| W/N | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.528 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| W/P | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.716 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.363 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| W/R | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.484 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.719781307 | None | None | N |
| W/S | 0.9965 | likely_pathogenic | 0.9963 | pathogenic | -3.664 | Highly Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.719781307 | None | None | N |
| W/T | 0.9966 | likely_pathogenic | 0.9966 | pathogenic | -3.482 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/V | 0.9793 | likely_pathogenic | 0.9791 | pathogenic | -2.716 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| W/Y | 0.9471 | likely_pathogenic | 0.9456 | pathogenic | -1.954 | Destabilizing | 1.0 | D | 0.788 | 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.