Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22160 | 66703;66704;66705 | chr2:178581790;178581789;178581788 | chr2:179446517;179446516;179446515 |
| N2AB | 20519 | 61780;61781;61782 | chr2:178581790;178581789;178581788 | chr2:179446517;179446516;179446515 |
| N2A | 19592 | 58999;59000;59001 | chr2:178581790;178581789;178581788 | chr2:179446517;179446516;179446515 |
| N2B | 13095 | 39508;39509;39510 | chr2:178581790;178581789;178581788 | chr2:179446517;179446516;179446515 |
| Novex-1 | 13220 | 39883;39884;39885 | chr2:178581790;178581789;178581788 | chr2:179446517;179446516;179446515 |
| Novex-2 | 13287 | 40084;40085;40086 | chr2:178581790;178581789;178581788 | chr2:179446517;179446516;179446515 |
| 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/L | rs777364605  |
-0.456 | 1.0 | D | 0.899 | 0.69 | None | gnomAD-2.1.1 | 1.77E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.6E-05 | None | 0 | 2.94E-05 | 0 |
| P/L | rs777364605 |
-0.456 | 1.0 | D | 0.899 | 0.69 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/L | rs777364605 |
-0.456 | 1.0 | D | 0.899 | 0.69 | None | gnomAD-4.0.0 | 2.19011E-05 | None | None | None | None | N | None | 0 | 3.49357E-05 | None | 0 | 0 | None | 0 | 0 | 2.7304E-05 | 1.12304E-05 | 0 |
| P/Q | None | None | 1.0 | D | 0.864 | 0.676 | 0.780957376407 | gnomAD-4.0.0 | 6.91537E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.05797E-07 | 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 | 0.8338 | likely_pathogenic | 0.8752 | pathogenic | -2.213 | Highly Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.551879876 | None | None | N |
| P/C | 0.9769 | likely_pathogenic | 0.9847 | pathogenic | -2.171 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.9997 | pathogenic | -3.225 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| P/E | 0.9983 | likely_pathogenic | 0.9991 | pathogenic | -2.99 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| P/F | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| P/G | 0.9941 | likely_pathogenic | 0.9964 | pathogenic | -2.747 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/H | 0.9985 | likely_pathogenic | 0.9991 | pathogenic | -2.488 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/I | 0.9724 | likely_pathogenic | 0.9757 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| P/K | 0.9989 | likely_pathogenic | 0.9994 | pathogenic | -1.793 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/L | 0.9489 | likely_pathogenic | 0.9599 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.562475713 | None | None | N |
| P/M | 0.9931 | likely_pathogenic | 0.9948 | pathogenic | -1.121 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/N | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -2.251 | Highly Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| P/Q | 0.9973 | likely_pathogenic | 0.9986 | pathogenic | -2.063 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.575606445 | None | None | N |
| P/R | 0.9961 | likely_pathogenic | 0.9979 | pathogenic | -1.683 | Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.575099466 | None | None | N |
| P/S | 0.9865 | likely_pathogenic | 0.9921 | pathogenic | -2.807 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.56399665 | None | None | N |
| P/T | 0.968 | likely_pathogenic | 0.9781 | pathogenic | -2.431 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.563236181 | None | None | N |
| P/V | 0.8851 | likely_pathogenic | 0.8986 | pathogenic | -1.184 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.751 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.421 | Destabilizing | 1.0 | D | 0.92 | 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.