Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17148 | 51667;51668;51669 | chr2:178609981;178609980;178609979 | chr2:179474708;179474707;179474706 |
| N2AB | 15507 | 46744;46745;46746 | chr2:178609981;178609980;178609979 | chr2:179474708;179474707;179474706 |
| N2A | 14580 | 43963;43964;43965 | chr2:178609981;178609980;178609979 | chr2:179474708;179474707;179474706 |
| N2B | 8083 | 24472;24473;24474 | chr2:178609981;178609980;178609979 | chr2:179474708;179474707;179474706 |
| Novex-1 | 8208 | 24847;24848;24849 | chr2:178609981;178609980;178609979 | chr2:179474708;179474707;179474706 |
| Novex-2 | 8275 | 25048;25049;25050 | chr2:178609981;178609980;178609979 | chr2:179474708;179474707;179474706 |
| 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/A | None | None | 0.999 | D | 0.827 | 0.51 | 0.580770577012 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| P/R | rs2154198776  |
None | 1.0 | D | 0.835 | 0.516 | 0.651931416193 | gnomAD-4.0.0 | 3.42732E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.50133E-06 | 0 | 0 |
| P/S | rs727504193 |
None | 1.0 | D | 0.775 | 0.519 | 0.572657343838 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
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 | 0.9203 | likely_pathogenic | 0.8981 | pathogenic | -1.812 | Destabilizing | 0.999 | D | 0.827 | deleterious | D | 0.531248773 | None | None | N |
| P/C | 0.9929 | likely_pathogenic | 0.9916 | pathogenic | -2.192 | Highly Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| P/D | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -3.459 | Highly Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| P/E | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -3.348 | Highly Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| P/F | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| P/G | 0.9965 | likely_pathogenic | 0.9949 | pathogenic | -2.172 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/H | 0.9993 | likely_pathogenic | 0.9989 | pathogenic | -1.589 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.550620476 | None | None | N |
| P/I | 0.9968 | likely_pathogenic | 0.9949 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| P/K | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -1.695 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/L | 0.99 | likely_pathogenic | 0.9841 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.522348003 | None | None | N |
| P/M | 0.9985 | likely_pathogenic | 0.9975 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| P/N | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.089 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| P/Q | 0.999 | likely_pathogenic | 0.9983 | pathogenic | -2.136 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/R | 0.9982 | likely_pathogenic | 0.9971 | pathogenic | -1.312 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.538503702 | None | None | N |
| P/S | 0.9932 | likely_pathogenic | 0.991 | pathogenic | -2.439 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.522601493 | None | None | N |
| P/T | 0.9915 | likely_pathogenic | 0.9885 | pathogenic | -2.223 | Highly Destabilizing | 1.0 | D | 0.782 | deleterious | N | 0.502295192 | None | None | N |
| P/V | 0.9865 | likely_pathogenic | 0.9808 | pathogenic | -1.143 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.444 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| P/Y | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.833 | 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.