Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17788 | 53587;53588;53589 | chr2:178607240;178607239;178607238 | chr2:179471967;179471966;179471965 |
| N2AB | 16147 | 48664;48665;48666 | chr2:178607240;178607239;178607238 | chr2:179471967;179471966;179471965 |
| N2A | 15220 | 45883;45884;45885 | chr2:178607240;178607239;178607238 | chr2:179471967;179471966;179471965 |
| N2B | 8723 | 26392;26393;26394 | chr2:178607240;178607239;178607238 | chr2:179471967;179471966;179471965 |
| Novex-1 | 8848 | 26767;26768;26769 | chr2:178607240;178607239;178607238 | chr2:179471967;179471966;179471965 |
| Novex-2 | 8915 | 26968;26969;26970 | chr2:178607240;178607239;178607238 | chr2:179471967;179471966;179471965 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/Q | rs1456305922  |
-1.865 | 1.0 | D | 0.82 | 0.593 | 0.542587012665 | 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 |
| P/Q | rs1456305922 |
-1.865 | 1.0 | D | 0.82 | 0.593 | 0.542587012665 | gnomAD-4.0.0 | 3.18626E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86714E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9294 | likely_pathogenic | 0.9025 | pathogenic | -1.932 | Destabilizing | 1.0 | D | 0.82 | deleterious | N | 0.51978079 | None | None | N |
| P/C | 0.9916 | likely_pathogenic | 0.9887 | pathogenic | -1.177 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/D | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -2.089 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| P/E | 0.9983 | likely_pathogenic | 0.9975 | pathogenic | -2.017 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/F | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.379 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/G | 0.9919 | likely_pathogenic | 0.9895 | pathogenic | -2.342 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/H | 0.998 | likely_pathogenic | 0.9968 | pathogenic | -2.033 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/I | 0.9946 | likely_pathogenic | 0.9919 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/K | 0.9989 | likely_pathogenic | 0.9983 | pathogenic | -1.63 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/L | 0.983 | likely_pathogenic | 0.9741 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.541897517 | None | None | N |
| P/M | 0.9961 | likely_pathogenic | 0.9946 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/N | 0.999 | likely_pathogenic | 0.9986 | pathogenic | -1.496 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/Q | 0.9979 | likely_pathogenic | 0.9967 | pathogenic | -1.572 | Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.532151054 | None | None | N |
| P/R | 0.9965 | likely_pathogenic | 0.9941 | pathogenic | -1.197 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.531897564 | None | None | N |
| P/S | 0.9914 | likely_pathogenic | 0.9856 | pathogenic | -2.041 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.50438556 | None | None | N |
| P/T | 0.979 | likely_pathogenic | 0.9682 | pathogenic | -1.853 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.531390585 | None | None | N |
| P/V | 0.9803 | likely_pathogenic | 0.9727 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.729 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.428 | Destabilizing | 1.0 | D | 0.893 | 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.