Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8660 | 26203;26204;26205 | chr2:178715208;178715207;178715206 | chr2:179579935;179579934;179579933 |
| N2AB | 8343 | 25252;25253;25254 | chr2:178715208;178715207;178715206 | chr2:179579935;179579934;179579933 |
| N2A | 7416 | 22471;22472;22473 | chr2:178715208;178715207;178715206 | chr2:179579935;179579934;179579933 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.023 | N | 0.247 | 0.087 | 0.350746614512 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 3.66327E-05 |
| V/I | rs141856116  |
-0.581 | 0.002 | N | 0.349 | 0.061 | None | gnomAD-2.1.1 | 1.49573E-03 | None | None | None | None | N | None | 1.03348E-02 | 1.32986E-03 | None | 5.50938E-03 | 0 | None | 3.27E-05 | None | 0 | 4.45083E-04 | 9.83699E-04 |
| V/I | rs141856116 |
-0.581 | 0.002 | N | 0.349 | 0.061 | None | gnomAD-3.1.2 | 3.46405E-03 | None | None | None | None | N | None | 1.07169E-02 | 2.16082E-03 | 0 | 6.33641E-03 | 0 | None | 0 | 3.16456E-03 | 3.08715E-04 | 0 | 2.86807E-03 |
| V/I | rs141856116 |
-0.581 | 0.002 | N | 0.349 | 0.061 | None | 1000 genomes | 3.79393E-03 | None | None | None | None | N | None | 1.13E-02 | 4.3E-03 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| V/I | rs141856116 |
-0.581 | 0.002 | N | 0.349 | 0.061 | None | gnomAD-4.0.0 | 1.02997E-03 | None | None | None | None | N | None | 1.08E-02 | 1.61656E-03 | None | 6.82571E-03 | 0 | None | 0 | 1.98413E-03 | 3.59419E-04 | 4.3929E-05 | 1.80858E-03 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.237 | likely_benign | 0.2201 | benign | -1.93 | Destabilizing | 0.023 | N | 0.247 | neutral | N | 0.451842804 | None | None | N |
| V/C | 0.7754 | likely_pathogenic | 0.7867 | pathogenic | -1.318 | Destabilizing | 0.998 | D | 0.731 | prob.delet. | None | None | None | None | N |
| V/D | 0.8649 | likely_pathogenic | 0.8769 | pathogenic | -2.317 | Highly Destabilizing | 0.987 | D | 0.819 | deleterious | D | 0.52616794 | None | None | N |
| V/E | 0.7777 | likely_pathogenic | 0.8061 | pathogenic | -2.185 | Highly Destabilizing | 0.941 | D | 0.775 | deleterious | None | None | None | None | N |
| V/F | 0.2836 | likely_benign | 0.3003 | benign | -1.251 | Destabilizing | 0.965 | D | 0.804 | deleterious | N | 0.488603077 | None | None | N |
| V/G | 0.4192 | ambiguous | 0.4156 | ambiguous | -2.386 | Highly Destabilizing | 0.876 | D | 0.776 | deleterious | N | 0.477273225 | None | None | N |
| V/H | 0.8901 | likely_pathogenic | 0.9091 | pathogenic | -2.042 | Highly Destabilizing | 0.998 | D | 0.78 | deleterious | None | None | None | None | N |
| V/I | 0.076 | likely_benign | 0.0769 | benign | -0.705 | Destabilizing | 0.002 | N | 0.349 | neutral | N | 0.512219259 | None | None | N |
| V/K | 0.7908 | likely_pathogenic | 0.8297 | pathogenic | -1.823 | Destabilizing | 0.945 | D | 0.78 | deleterious | None | None | None | None | N |
| V/L | 0.293 | likely_benign | 0.3031 | benign | -0.705 | Destabilizing | 0.002 | N | 0.257 | neutral | N | 0.484973943 | None | None | N |
| V/M | 0.1943 | likely_benign | 0.2015 | benign | -0.521 | Destabilizing | 0.963 | D | 0.653 | neutral | None | None | None | None | N |
| V/N | 0.7148 | likely_pathogenic | 0.7374 | pathogenic | -1.88 | Destabilizing | 0.94 | D | 0.809 | deleterious | None | None | None | None | N |
| V/P | 0.9779 | likely_pathogenic | 0.9754 | pathogenic | -1.083 | Destabilizing | 0.837 | D | 0.786 | deleterious | None | None | None | None | N |
| V/Q | 0.7356 | likely_pathogenic | 0.7854 | pathogenic | -1.869 | Destabilizing | 0.987 | D | 0.76 | deleterious | None | None | None | None | N |
| V/R | 0.718 | likely_pathogenic | 0.7703 | pathogenic | -1.421 | Destabilizing | 0.987 | D | 0.814 | deleterious | None | None | None | None | N |
| V/S | 0.4353 | ambiguous | 0.449 | ambiguous | -2.434 | Highly Destabilizing | 0.737 | D | 0.742 | deleterious | None | None | None | None | N |
| V/T | 0.2758 | likely_benign | 0.2756 | benign | -2.176 | Highly Destabilizing | 0.693 | D | 0.65 | neutral | None | None | None | None | N |
| V/W | 0.9391 | likely_pathogenic | 0.9468 | pathogenic | -1.682 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| V/Y | 0.7716 | likely_pathogenic | 0.8041 | pathogenic | -1.328 | Destabilizing | 0.987 | D | 0.767 | 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.