Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9384 | 28375;28376;28377 | chr2:178711086;178711085;178711084 | chr2:179575813;179575812;179575811 |
| N2AB | 9067 | 27424;27425;27426 | chr2:178711086;178711085;178711084 | chr2:179575813;179575812;179575811 |
| N2A | 8140 | 24643;24644;24645 | chr2:178711086;178711085;178711084 | chr2:179575813;179575812;179575811 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs760466007  |
-0.603 | 0.015 | None | 0.382 | 0.228 | 0.331619326243 | gnomAD-2.1.1 | 4.2E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.2E-06 | 0 |
| S/C | rs760466007 |
-0.603 | 0.015 | None | 0.382 | 0.228 | 0.331619326243 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| S/C | rs760466007 |
-0.603 | 0.015 | None | 0.382 | 0.228 | 0.331619326243 | gnomAD-4.0.0 | 5.63418E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.68036E-06 | 0 | 0 |
| S/F | rs760466007 |
None | 0.996 | None | 0.707 | 0.443 | 0.674110883911 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs760466007 |
None | 0.996 | None | 0.707 | 0.443 | 0.674110883911 | gnomAD-4.0.0 | 6.57108E-06 | None | None | None | None | N | None | 0 | 6.54793E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1619 | likely_benign | 0.141 | benign | -1.017 | Destabilizing | 0.675 | D | 0.471 | neutral | None | None | None | None | N |
| S/C | 0.1699 | likely_benign | 0.1685 | benign | -0.599 | Destabilizing | 0.015 | N | 0.382 | neutral | None | None | None | None | N |
| S/D | 0.9331 | likely_pathogenic | 0.924 | pathogenic | -0.032 | Destabilizing | 0.99 | D | 0.62 | neutral | None | None | None | None | N |
| S/E | 0.9615 | likely_pathogenic | 0.9566 | pathogenic | -0.041 | Destabilizing | 0.99 | D | 0.625 | neutral | None | None | None | None | N |
| S/F | 0.7607 | likely_pathogenic | 0.7319 | pathogenic | -1.303 | Destabilizing | 0.996 | D | 0.707 | prob.neutral | None | None | None | None | N |
| S/G | 0.2612 | likely_benign | 0.2314 | benign | -1.239 | Destabilizing | 0.969 | D | 0.583 | neutral | None | None | None | None | N |
| S/H | 0.8521 | likely_pathogenic | 0.8488 | pathogenic | -1.64 | Destabilizing | 0.999 | D | 0.632 | neutral | None | None | None | None | N |
| S/I | 0.6664 | likely_pathogenic | 0.5717 | pathogenic | -0.524 | Destabilizing | 0.991 | D | 0.697 | prob.neutral | None | None | None | None | N |
| S/K | 0.9847 | likely_pathogenic | 0.9815 | pathogenic | -0.554 | Destabilizing | 0.99 | D | 0.623 | neutral | None | None | None | None | N |
| S/L | 0.4554 | ambiguous | 0.372 | ambiguous | -0.524 | Destabilizing | 0.939 | D | 0.612 | neutral | None | None | None | None | N |
| S/M | 0.6741 | likely_pathogenic | 0.6146 | pathogenic | -0.128 | Destabilizing | 0.997 | D | 0.648 | neutral | None | None | None | None | N |
| S/N | 0.6259 | likely_pathogenic | 0.5938 | pathogenic | -0.471 | Destabilizing | 0.99 | D | 0.645 | neutral | None | None | None | None | N |
| S/P | 0.9866 | likely_pathogenic | 0.9849 | pathogenic | -0.657 | Destabilizing | 0.996 | D | 0.674 | neutral | None | None | None | None | N |
| S/Q | 0.9277 | likely_pathogenic | 0.9233 | pathogenic | -0.678 | Destabilizing | 0.997 | D | 0.646 | neutral | None | None | None | None | N |
| S/R | 0.9642 | likely_pathogenic | 0.9584 | pathogenic | -0.432 | Destabilizing | 0.997 | D | 0.681 | prob.neutral | None | None | None | None | N |
| S/T | 0.1783 | likely_benign | 0.1585 | benign | -0.602 | Destabilizing | 0.959 | D | 0.609 | neutral | None | None | None | None | N |
| S/V | 0.542 | ambiguous | 0.4601 | ambiguous | -0.657 | Destabilizing | 0.939 | D | 0.644 | neutral | None | None | None | None | N |
| S/W | 0.9122 | likely_pathogenic | 0.9012 | pathogenic | -1.18 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | None | None | None | None | N |
| S/Y | 0.7227 | likely_pathogenic | 0.7052 | pathogenic | -0.94 | Destabilizing | 0.996 | D | 0.693 | prob.neutral | 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.