Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7478 | 22657;22658;22659 | chr2:178722355;178722354;178722353 | chr2:179587082;179587081;179587080 |
| N2AB | 7161 | 21706;21707;21708 | chr2:178722355;178722354;178722353 | chr2:179587082;179587081;179587080 |
| N2A | 6234 | 18925;18926;18927 | chr2:178722355;178722354;178722353 | chr2:179587082;179587081;179587080 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | None | None | 0.935 | D | 0.703 | 0.641 | 0.68019974778 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| I/N | None | None | 1.0 | D | 0.892 | 0.768 | 0.918946889605 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| I/S | rs912873564  |
None | 0.999 | D | 0.842 | 0.752 | 0.928535201343 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/S | rs912873564 |
None | 0.999 | D | 0.842 | 0.752 | 0.928535201343 | gnomAD-4.0.0 | 6.57644E-06 | None | None | None | None | N | None | 2.41453E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs1191020503 |
-2.125 | 0.425 | D | 0.352 | 0.401 | 0.702337487306 | gnomAD-2.1.1 | 9.56E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.94477E-04 | 0 |
| I/V | rs1191020503 |
-2.125 | 0.425 | D | 0.352 | 0.401 | 0.702337487306 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| I/V | rs1191020503 |
-2.125 | 0.425 | D | 0.352 | 0.401 | 0.702337487306 | gnomAD-4.0.0 | 6.19901E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47797E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.971 | likely_pathogenic | 0.9617 | pathogenic | -3.068 | Highly Destabilizing | 0.996 | D | 0.713 | prob.delet. | None | None | None | None | N |
| I/C | 0.965 | likely_pathogenic | 0.9512 | pathogenic | -2.434 | Highly Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| I/D | 0.9945 | likely_pathogenic | 0.9923 | pathogenic | -3.859 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| I/E | 0.9916 | likely_pathogenic | 0.9883 | pathogenic | -3.606 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| I/F | 0.2496 | likely_benign | 0.2539 | benign | -1.859 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | D | 0.558791299 | None | None | N |
| I/G | 0.9908 | likely_pathogenic | 0.9884 | pathogenic | -3.624 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| I/H | 0.9621 | likely_pathogenic | 0.9508 | pathogenic | -3.168 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| I/K | 0.9814 | likely_pathogenic | 0.974 | pathogenic | -2.651 | Highly Destabilizing | 0.999 | D | 0.883 | deleterious | None | None | None | None | N |
| I/L | 0.1782 | likely_benign | 0.187 | benign | -1.419 | Destabilizing | 0.001 | N | 0.291 | neutral | D | 0.54634444 | None | None | N |
| I/M | 0.2348 | likely_benign | 0.226 | benign | -1.383 | Destabilizing | 0.935 | D | 0.703 | prob.neutral | D | 0.594837541 | None | None | N |
| I/N | 0.9321 | likely_pathogenic | 0.9135 | pathogenic | -3.141 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.624109929 | None | None | N |
| I/P | 0.9941 | likely_pathogenic | 0.9941 | pathogenic | -1.956 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| I/Q | 0.978 | likely_pathogenic | 0.972 | pathogenic | -2.942 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| I/R | 0.9679 | likely_pathogenic | 0.9588 | pathogenic | -2.307 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| I/S | 0.9635 | likely_pathogenic | 0.9527 | pathogenic | -3.744 | Highly Destabilizing | 0.999 | D | 0.842 | deleterious | D | 0.624109929 | None | None | N |
| I/T | 0.9807 | likely_pathogenic | 0.972 | pathogenic | -3.354 | Highly Destabilizing | 0.998 | D | 0.772 | deleterious | D | 0.616973545 | None | None | N |
| I/V | 0.2508 | likely_benign | 0.2306 | benign | -1.956 | Destabilizing | 0.425 | N | 0.352 | neutral | D | 0.536201683 | None | None | N |
| I/W | 0.9229 | likely_pathogenic | 0.9146 | pathogenic | -2.39 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| I/Y | 0.7401 | likely_pathogenic | 0.7167 | pathogenic | -2.179 | Highly Destabilizing | 0.989 | D | 0.785 | 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.