Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28943 | 87052;87053;87054 | chr2:178558632;178558631;178558630 | chr2:179423359;179423358;179423357 |
| N2AB | 27302 | 82129;82130;82131 | chr2:178558632;178558631;178558630 | chr2:179423359;179423358;179423357 |
| N2A | 26375 | 79348;79349;79350 | chr2:178558632;178558631;178558630 | chr2:179423359;179423358;179423357 |
| N2B | 19878 | 59857;59858;59859 | chr2:178558632;178558631;178558630 | chr2:179423359;179423358;179423357 |
| Novex-1 | 20003 | 60232;60233;60234 | chr2:178558632;178558631;178558630 | chr2:179423359;179423358;179423357 |
| Novex-2 | 20070 | 60433;60434;60435 | chr2:178558632;178558631;178558630 | chr2:179423359;179423358;179423357 |
| 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 | rs917359469  |
-0.387 | 1.0 | D | 0.89 | 0.568 | 0.717260364112 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs917359469 |
-0.387 | 1.0 | D | 0.89 | 0.568 | 0.717260364112 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs917359469 |
-0.387 | 1.0 | D | 0.89 | 0.568 | 0.717260364112 | gnomAD-4.0.0 | 3.8641E-06 | None | None | None | None | N | None | 5.09182E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/Q | rs917359469 |
-2.083 | 1.0 | D | 0.886 | 0.613 | 0.588082203375 | gnomAD-2.1.1 | 4.12E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.1E-06 | 0 |
| P/Q | rs917359469 |
-2.083 | 1.0 | D | 0.886 | 0.613 | 0.588082203375 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/Q | rs917359469 |
-2.083 | 1.0 | D | 0.886 | 0.613 | 0.588082203375 | gnomAD-4.0.0 | 2.57606E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.59129E-05 | 0 | 2.39707E-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 | 0.8523 | likely_pathogenic | 0.8522 | pathogenic | -1.492 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.531719754 | None | None | N |
| P/C | 0.9886 | likely_pathogenic | 0.9877 | pathogenic | -2.157 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -3.464 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| P/E | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -3.384 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/F | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/G | 0.9933 | likely_pathogenic | 0.9933 | pathogenic | -1.811 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/H | 0.9974 | likely_pathogenic | 0.9981 | pathogenic | -1.252 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/I | 0.9797 | likely_pathogenic | 0.9827 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| P/K | 0.9989 | likely_pathogenic | 0.9992 | pathogenic | -1.572 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/L | 0.9441 | likely_pathogenic | 0.9537 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.89 | deleterious | D | 0.526831455 | None | None | N |
| P/M | 0.991 | likely_pathogenic | 0.9929 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| P/N | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -1.992 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/Q | 0.9964 | likely_pathogenic | 0.9971 | pathogenic | -2.111 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.555357417 | None | None | N |
| P/R | 0.9961 | likely_pathogenic | 0.9971 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.543583038 | None | None | N |
| P/S | 0.9878 | likely_pathogenic | 0.9879 | pathogenic | -2.273 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.543329549 | None | None | N |
| P/T | 0.9779 | likely_pathogenic | 0.9795 | pathogenic | -2.093 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.525136388 | None | None | N |
| P/V | 0.9477 | likely_pathogenic | 0.9515 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.39 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| P/Y | 0.9989 | likely_pathogenic | 0.9993 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.884 | 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.