Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19319 | 58180;58181;58182 | chr2:178594539;178594538;178594537 | chr2:179459266;179459265;179459264 |
| N2AB | 17678 | 53257;53258;53259 | chr2:178594539;178594538;178594537 | chr2:179459266;179459265;179459264 |
| N2A | 16751 | 50476;50477;50478 | chr2:178594539;178594538;178594537 | chr2:179459266;179459265;179459264 |
| N2B | 10254 | 30985;30986;30987 | chr2:178594539;178594538;178594537 | chr2:179459266;179459265;179459264 |
| Novex-1 | 10379 | 31360;31361;31362 | chr2:178594539;178594538;178594537 | chr2:179459266;179459265;179459264 |
| Novex-2 | 10446 | 31561;31562;31563 | chr2:178594539;178594538;178594537 | chr2:179459266;179459265;179459264 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs369082749  |
-1.408 | 1.0 | D | 0.851 | 0.813 | None | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | N | None | 1.24028E-04 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 3.13E-05 | 0 |
| Y/C | rs369082749 |
-1.408 | 1.0 | D | 0.851 | 0.813 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| Y/C | rs369082749 |
-1.408 | 1.0 | D | 0.851 | 0.813 | None | gnomAD-4.0.0 | 2.54148E-05 | None | None | None | None | N | None | 6.67485E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.79777E-05 | 1.09837E-05 | 3.20287E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9985 | likely_pathogenic | 0.9976 | pathogenic | -3.363 | Highly Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| Y/C | 0.975 | likely_pathogenic | 0.9573 | pathogenic | -1.807 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.653727 | None | None | N |
| Y/D | 0.9975 | likely_pathogenic | 0.9959 | pathogenic | -3.826 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.654130608 | None | None | N |
| Y/E | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -3.6 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| Y/F | 0.3888 | ambiguous | 0.383 | ambiguous | -1.371 | Destabilizing | 0.999 | D | 0.653 | neutral | D | 0.568029677 | None | None | N |
| Y/G | 0.9946 | likely_pathogenic | 0.9929 | pathogenic | -3.781 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| Y/H | 0.9905 | likely_pathogenic | 0.9834 | pathogenic | -2.537 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.637475474 | None | None | N |
| Y/I | 0.9881 | likely_pathogenic | 0.983 | pathogenic | -1.944 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| Y/K | 0.9995 | likely_pathogenic | 0.999 | pathogenic | -2.468 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| Y/L | 0.9701 | likely_pathogenic | 0.955 | pathogenic | -1.944 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| Y/M | 0.9929 | likely_pathogenic | 0.9898 | pathogenic | -1.619 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| Y/N | 0.9901 | likely_pathogenic | 0.9838 | pathogenic | -3.334 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.654130608 | None | None | N |
| Y/P | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -2.437 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| Y/Q | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | -3.034 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| Y/R | 0.9974 | likely_pathogenic | 0.9955 | pathogenic | -2.315 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| Y/S | 0.9941 | likely_pathogenic | 0.9905 | pathogenic | -3.616 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.654130608 | None | None | N |
| Y/T | 0.9973 | likely_pathogenic | 0.9956 | pathogenic | -3.267 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| Y/V | 0.9765 | likely_pathogenic | 0.9672 | pathogenic | -2.437 | Highly Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| Y/W | 0.8996 | likely_pathogenic | 0.8908 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.82 | 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.