Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1111 | 3556;3557;3558 | chr2:178782261;178782260;178782259 | chr2:179646988;179646987;179646986 |
| N2AB | 1111 | 3556;3557;3558 | chr2:178782261;178782260;178782259 | chr2:179646988;179646987;179646986 |
| N2A | 1111 | 3556;3557;3558 | chr2:178782261;178782260;178782259 | chr2:179646988;179646987;179646986 |
| N2B | 1065 | 3418;3419;3420 | chr2:178782261;178782260;178782259 | chr2:179646988;179646987;179646986 |
| Novex-1 | 1065 | 3418;3419;3420 | chr2:178782261;178782260;178782259 | chr2:179646988;179646987;179646986 |
| Novex-2 | 1065 | 3418;3419;3420 | chr2:178782261;178782260;178782259 | chr2:179646988;179646987;179646986 |
| Novex-3 | 1111 | 3556;3557;3558 | chr2:178782261;178782260;178782259 | chr2:179646988;179646987;179646986 |
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/L | None | None | 1.0 | D | 0.819 | 0.759 | 0.86771504586 | gnomAD-4.0.0 | 1.59051E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| P/S | rs727504210  |
-2.364 | 1.0 | D | 0.82 | 0.747 | 0.620428437143 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| P/S | rs727504210 |
-2.364 | 1.0 | D | 0.82 | 0.747 | 0.620428437143 | gnomAD-4.0.0 | 7.52477E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.8923E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.826 | likely_pathogenic | 0.8179 | pathogenic | -2.069 | Highly Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.604524705 | None | None | N |
| P/C | 0.9922 | likely_pathogenic | 0.9918 | pathogenic | -1.468 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| P/D | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -2.584 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/E | 0.9978 | likely_pathogenic | 0.9978 | pathogenic | -2.421 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/F | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/G | 0.9854 | likely_pathogenic | 0.9852 | pathogenic | -2.557 | Highly Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| P/H | 0.9971 | likely_pathogenic | 0.9973 | pathogenic | -2.312 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.757245446 | None | None | N |
| P/I | 0.9797 | likely_pathogenic | 0.9826 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/K | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -1.78 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/L | 0.9457 | likely_pathogenic | 0.9497 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.650784453 | None | None | N |
| P/M | 0.9921 | likely_pathogenic | 0.9931 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| P/N | 0.998 | likely_pathogenic | 0.9978 | pathogenic | -1.933 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/Q | 0.9952 | likely_pathogenic | 0.9955 | pathogenic | -1.873 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/R | 0.9965 | likely_pathogenic | 0.9964 | pathogenic | -1.476 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.756430554 | None | None | N |
| P/S | 0.9812 | likely_pathogenic | 0.9804 | pathogenic | -2.513 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.705809044 | None | None | N |
| P/T | 0.97 | likely_pathogenic | 0.9706 | pathogenic | -2.221 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.717703051 | None | None | N |
| P/V | 0.951 | likely_pathogenic | 0.9561 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/W | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.838 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| P/Y | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -1.468 | Destabilizing | 1.0 | D | 0.813 | 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.