Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26809 | 80650;80651;80652 | chr2:178565707;178565706;178565705 | chr2:179430434;179430433;179430432 |
| N2AB | 25168 | 75727;75728;75729 | chr2:178565707;178565706;178565705 | chr2:179430434;179430433;179430432 |
| N2A | 24241 | 72946;72947;72948 | chr2:178565707;178565706;178565705 | chr2:179430434;179430433;179430432 |
| N2B | 17744 | 53455;53456;53457 | chr2:178565707;178565706;178565705 | chr2:179430434;179430433;179430432 |
| Novex-1 | 17869 | 53830;53831;53832 | chr2:178565707;178565706;178565705 | chr2:179430434;179430433;179430432 |
| Novex-2 | 17936 | 54031;54032;54033 | chr2:178565707;178565706;178565705 | chr2:179430434;179430433;179430432 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs532522359  |
-0.634 | 1.0 | N | 0.683 | 0.643 | 0.511220899679 | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | I | None | 0 | 5.8E-05 | None | 9.97E-05 | 1.11445E-04 | None | 0 | None | 0 | 8.92E-06 | 1.65893E-04 |
| G/D | rs532522359 |
-0.634 | 1.0 | N | 0.683 | 0.643 | 0.511220899679 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 3.86997E-04 | None | 0 | 3.16456E-03 | 0 | 0 | 0 |
| G/D | rs532522359 |
-0.634 | 1.0 | N | 0.683 | 0.643 | 0.511220899679 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| G/D | rs532522359 |
-0.634 | 1.0 | N | 0.683 | 0.643 | 0.511220899679 | gnomAD-4.0.0 | 1.92115E-05 | None | None | None | None | I | None | 0 | 3.33344E-05 | None | 3.37906E-05 | 1.78388E-04 | None | 0 | 3.30251E-04 | 1.35635E-05 | 1.09789E-05 | 1.60102E-05 |
| G/R | rs369941201 |
None | 1.0 | N | 0.798 | 0.608 | 0.706434537488 | gnomAD-4.0.0 | 6.84279E-07 | None | None | None | None | I | None | 2.98989E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs369941201 |
-0.18 | 1.0 | N | 0.691 | 0.487 | None | gnomAD-2.1.1 | 2.50374E-04 | None | None | None | None | I | None | 8.27E-05 | 0 | None | 9.69E-05 | 2.0517E-04 | None | 0 | None | 4E-05 | 4.86313E-04 | 0 |
| G/S | rs369941201 |
-0.18 | 1.0 | N | 0.691 | 0.487 | None | gnomAD-3.1.2 | 3.09076E-04 | None | None | None | None | I | None | 1.20674E-04 | 0 | 0 | 0 | 1.93424E-04 | None | 0 | 0 | 6.03065E-04 | 0 | 0 |
| G/S | rs369941201 |
-0.18 | 1.0 | N | 0.691 | 0.487 | None | gnomAD-4.0.0 | 7.48702E-04 | None | None | None | None | I | None | 9.34829E-05 | 0 | None | 3.37883E-05 | 2.22926E-05 | None | 7.81006E-05 | 0 | 9.96072E-04 | 1.09789E-05 | 2.88332E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8498 | likely_pathogenic | 0.8719 | pathogenic | -0.147 | Destabilizing | 1.0 | D | 0.611 | neutral | N | 0.491449547 | None | None | I |
| G/C | 0.9352 | likely_pathogenic | 0.9405 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.536420696 | None | None | I |
| G/D | 0.9764 | likely_pathogenic | 0.9844 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | N | 0.517302483 | None | None | I |
| G/E | 0.9829 | likely_pathogenic | 0.9879 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/F | 0.9855 | likely_pathogenic | 0.9869 | pathogenic | -0.962 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/H | 0.9863 | likely_pathogenic | 0.9896 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/I | 0.9792 | likely_pathogenic | 0.9828 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/K | 0.9879 | likely_pathogenic | 0.9908 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/L | 0.9794 | likely_pathogenic | 0.9837 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/M | 0.9892 | likely_pathogenic | 0.9913 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/N | 0.9631 | likely_pathogenic | 0.9749 | pathogenic | -0.183 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | I |
| G/P | 0.9964 | likely_pathogenic | 0.997 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/Q | 0.9802 | likely_pathogenic | 0.9847 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/R | 0.9647 | likely_pathogenic | 0.9675 | pathogenic | -0.06 | Destabilizing | 1.0 | D | 0.798 | deleterious | N | 0.498059366 | None | None | I |
| G/S | 0.7588 | likely_pathogenic | 0.7753 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.496551655 | None | None | I |
| G/T | 0.9583 | likely_pathogenic | 0.9659 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/V | 0.9682 | likely_pathogenic | 0.9731 | pathogenic | -0.308 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.543168646 | None | None | I |
| G/W | 0.9817 | likely_pathogenic | 0.9806 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/Y | 0.9819 | likely_pathogenic | 0.9837 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
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.