Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30295 | 91108;91109;91110 | chr2:178552017;178552016;178552015 | chr2:179416744;179416743;179416742 |
| N2AB | 28654 | 86185;86186;86187 | chr2:178552017;178552016;178552015 | chr2:179416744;179416743;179416742 |
| N2A | 27727 | 83404;83405;83406 | chr2:178552017;178552016;178552015 | chr2:179416744;179416743;179416742 |
| N2B | 21230 | 63913;63914;63915 | chr2:178552017;178552016;178552015 | chr2:179416744;179416743;179416742 |
| Novex-1 | 21355 | 64288;64289;64290 | chr2:178552017;178552016;178552015 | chr2:179416744;179416743;179416742 |
| Novex-2 | 21422 | 64489;64490;64491 | chr2:178552017;178552016;178552015 | chr2:179416744;179416743;179416742 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs369202604  |
None | 1.0 | D | 0.886 | 0.916 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/C | rs369202604 |
None | 1.0 | D | 0.886 | 0.916 | None | gnomAD-4.0.0 | 3.04481E-06 | None | None | None | None | N | None | 1.74709E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40985E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9976 | likely_pathogenic | 0.9971 | pathogenic | -3.296 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| Y/C | 0.9787 | likely_pathogenic | 0.9696 | pathogenic | -1.924 | Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.678507846 | None | None | N |
| Y/D | 0.9963 | likely_pathogenic | 0.996 | pathogenic | -3.532 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.694527207 | None | None | N |
| Y/E | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -3.326 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| Y/F | 0.4315 | ambiguous | 0.3645 | ambiguous | -1.197 | Destabilizing | 0.999 | D | 0.759 | deleterious | D | 0.65533246 | None | None | N |
| Y/G | 0.9898 | likely_pathogenic | 0.9888 | pathogenic | -3.715 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| Y/H | 0.9858 | likely_pathogenic | 0.9813 | pathogenic | -2.182 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.678507846 | None | None | N |
| Y/I | 0.9775 | likely_pathogenic | 0.9714 | pathogenic | -1.899 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| Y/K | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -2.385 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| Y/L | 0.9672 | likely_pathogenic | 0.9595 | pathogenic | -1.899 | Destabilizing | 0.999 | D | 0.828 | deleterious | None | None | None | None | N |
| Y/M | 0.9888 | likely_pathogenic | 0.9854 | pathogenic | -1.612 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| Y/N | 0.9732 | likely_pathogenic | 0.9694 | pathogenic | -3.162 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.694325403 | None | None | N |
| Y/P | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -2.381 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| Y/Q | 0.9985 | likely_pathogenic | 0.9982 | pathogenic | -2.923 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| Y/R | 0.9974 | likely_pathogenic | 0.9969 | pathogenic | -2.077 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| Y/S | 0.9916 | likely_pathogenic | 0.9902 | pathogenic | -3.531 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.694527207 | None | None | N |
| Y/T | 0.996 | likely_pathogenic | 0.9952 | pathogenic | -3.207 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| Y/V | 0.9617 | likely_pathogenic | 0.9554 | pathogenic | -2.381 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| Y/W | 0.9345 | likely_pathogenic | 0.9149 | pathogenic | -0.457 | 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.