Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26622 | 80089;80090;80091 | chr2:178566268;178566267;178566266 | chr2:179430995;179430994;179430993 |
| N2AB | 24981 | 75166;75167;75168 | chr2:178566268;178566267;178566266 | chr2:179430995;179430994;179430993 |
| N2A | 24054 | 72385;72386;72387 | chr2:178566268;178566267;178566266 | chr2:179430995;179430994;179430993 |
| N2B | 17557 | 52894;52895;52896 | chr2:178566268;178566267;178566266 | chr2:179430995;179430994;179430993 |
| Novex-1 | 17682 | 53269;53270;53271 | chr2:178566268;178566267;178566266 | chr2:179430995;179430994;179430993 |
| Novex-2 | 17749 | 53470;53471;53472 | chr2:178566268;178566267;178566266 | chr2:179430995;179430994;179430993 |
| 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 | rs532706350  |
-0.347 | 1.0 | D | 0.827 | 0.685 | 0.866740344324 | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.34225E-04 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs532706350 |
-0.347 | 1.0 | D | 0.827 | 0.685 | 0.866740344324 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 7.73694E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs532706350 |
-0.347 | 1.0 | D | 0.827 | 0.685 | 0.866740344324 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| P/L | rs532706350 |
-0.347 | 1.0 | D | 0.827 | 0.685 | 0.866740344324 | gnomAD-4.0.0 | 5.82522E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.07376E-03 | None | 0 | 0 | 0 | 0 | 1.60077E-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 | 0.761 | likely_pathogenic | 0.7784 | pathogenic | -1.666 | Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.575543993 | None | None | N |
| P/C | 0.9873 | likely_pathogenic | 0.986 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/E | 0.9978 | likely_pathogenic | 0.9981 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/F | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -1.212 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/G | 0.9881 | likely_pathogenic | 0.9902 | pathogenic | -2.066 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| P/H | 0.9972 | likely_pathogenic | 0.9977 | pathogenic | -1.655 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.57706493 | None | None | N |
| P/I | 0.9851 | likely_pathogenic | 0.9845 | pathogenic | -0.637 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| P/K | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -1.211 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/L | 0.9386 | likely_pathogenic | 0.9378 | pathogenic | -0.637 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.554055468 | None | None | N |
| P/M | 0.9909 | likely_pathogenic | 0.9914 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| P/N | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -1.141 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| P/Q | 0.9947 | likely_pathogenic | 0.9958 | pathogenic | -1.182 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/R | 0.9946 | likely_pathogenic | 0.9954 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.576557951 | None | None | N |
| P/S | 0.9772 | likely_pathogenic | 0.9801 | pathogenic | -1.812 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.576050972 | None | None | N |
| P/T | 0.9607 | likely_pathogenic | 0.9655 | pathogenic | -1.6 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.576050972 | None | None | N |
| P/V | 0.9511 | likely_pathogenic | 0.9489 | pathogenic | -0.946 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.452 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| P/Y | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -1.111 | Destabilizing | 1.0 | D | 0.819 | 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.