Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5944 | 18055;18056;18057 | chr2:178730703;178730702;178730701 | chr2:179595430;179595429;179595428 |
| N2AB | 5627 | 17104;17105;17106 | chr2:178730703;178730702;178730701 | chr2:179595430;179595429;179595428 |
| N2A | 4700 | 14323;14324;14325 | chr2:178730703;178730702;178730701 | chr2:179595430;179595429;179595428 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs879222472  |
None | 1.0 | D | 0.806 | 0.818 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/E | rs879222472 |
None | 1.0 | D | 0.806 | 0.818 | None | gnomAD-4.0.0 | 4.95842E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78158E-06 | 0 | 0 |
| G/R | rs879142796 |
-0.252 | 1.0 | D | 0.803 | 0.846 | 0.907221789318 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14837E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs879142796 |
-0.252 | 1.0 | D | 0.803 | 0.846 | 0.907221789318 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs879142796 |
-0.252 | 1.0 | D | 0.803 | 0.846 | 0.907221789318 | gnomAD-4.0.0 | 3.84453E-06 | None | None | None | None | I | None | 5.07614E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs879222472 |
0.124 | 1.0 | D | 0.781 | 0.845 | 0.95689222792 | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 2.7E-05 | 0 |
| G/V | rs879222472 |
0.124 | 1.0 | D | 0.781 | 0.845 | 0.95689222792 | gnomAD-4.0.0 | 7.52716E-06 | None | None | None | None | I | None | 2.98846E-05 | 2.23674E-05 | None | 0 | 0 | None | 0 | 0 | 7.19641E-06 | 0 | 1.65695E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9442 | likely_pathogenic | 0.9309 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.563929282 | None | None | I |
| G/C | 0.996 | likely_pathogenic | 0.995 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | I |
| G/D | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/E | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.620416731 | None | None | I |
| G/F | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| G/H | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| G/I | 0.9985 | likely_pathogenic | 0.9982 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| G/K | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/L | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/M | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| G/N | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/Q | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -0.767 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/R | 0.9981 | likely_pathogenic | 0.9982 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.645408356 | None | None | I |
| G/S | 0.9686 | likely_pathogenic | 0.962 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/T | 0.9955 | likely_pathogenic | 0.9945 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/V | 0.9956 | likely_pathogenic | 0.9947 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.635889605 | None | None | I |
| G/W | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | D | 0.661831326 | None | None | I |
| G/Y | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
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.