Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14659 | 44200;44201;44202 | chr2:178631073;178631072;178631071 | chr2:179495800;179495799;179495798 |
| N2AB | 13018 | 39277;39278;39279 | chr2:178631073;178631072;178631071 | chr2:179495800;179495799;179495798 |
| N2A | 12091 | 36496;36497;36498 | chr2:178631073;178631072;178631071 | chr2:179495800;179495799;179495798 |
| N2B | 5594 | 17005;17006;17007 | chr2:178631073;178631072;178631071 | chr2:179495800;179495799;179495798 |
| Novex-1 | 5719 | 17380;17381;17382 | chr2:178631073;178631072;178631071 | chr2:179495800;179495799;179495798 |
| Novex-2 | 5786 | 17581;17582;17583 | chr2:178631073;178631072;178631071 | chr2:179495800;179495799;179495798 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | None | None | 1.0 | N | 0.852 | 0.456 | 0.456275507713 | gnomAD-4.0.0 | 6.84423E-07 | None | None | None | None | N | None | 2.98972E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/G | rs1460790358  |
-2.478 | 1.0 | N | 0.807 | 0.45 | 0.539251968656 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| C/G | rs1460790358 |
-2.478 | 1.0 | N | 0.807 | 0.45 | 0.539251968656 | gnomAD-4.0.0 | 6.00161E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.56251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.6432 | likely_pathogenic | 0.6322 | pathogenic | -1.82 | Destabilizing | 0.998 | D | 0.555 | neutral | None | None | None | None | N |
| C/D | 0.9784 | likely_pathogenic | 0.989 | pathogenic | -1.451 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| C/E | 0.9924 | likely_pathogenic | 0.9963 | pathogenic | -1.291 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| C/F | 0.7176 | likely_pathogenic | 0.8325 | pathogenic | -1.23 | Destabilizing | 1.0 | D | 0.852 | deleterious | N | 0.433007079 | None | None | N |
| C/G | 0.4776 | ambiguous | 0.5299 | ambiguous | -2.158 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.429699721 | None | None | N |
| C/H | 0.9578 | likely_pathogenic | 0.9807 | pathogenic | -2.428 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| C/I | 0.8356 | likely_pathogenic | 0.8767 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| C/K | 0.9934 | likely_pathogenic | 0.997 | pathogenic | -1.439 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| C/L | 0.798 | likely_pathogenic | 0.8494 | pathogenic | -0.931 | Destabilizing | 0.999 | D | 0.608 | neutral | None | None | None | None | N |
| C/M | 0.9224 | likely_pathogenic | 0.9429 | pathogenic | 0.172 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| C/N | 0.9508 | likely_pathogenic | 0.9695 | pathogenic | -1.697 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| C/P | 0.993 | likely_pathogenic | 0.996 | pathogenic | -1.202 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| C/Q | 0.982 | likely_pathogenic | 0.991 | pathogenic | -1.469 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| C/R | 0.9297 | likely_pathogenic | 0.9645 | pathogenic | -1.514 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.524860641 | None | None | N |
| C/S | 0.6305 | likely_pathogenic | 0.6777 | pathogenic | -2.08 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.447345552 | None | None | N |
| C/T | 0.7582 | likely_pathogenic | 0.7693 | pathogenic | -1.742 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| C/V | 0.729 | likely_pathogenic | 0.7589 | pathogenic | -1.202 | Destabilizing | 0.999 | D | 0.652 | neutral | None | None | None | None | N |
| C/W | 0.93 | likely_pathogenic | 0.9705 | pathogenic | -1.467 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.566622155 | None | None | N |
| C/Y | 0.8597 | likely_pathogenic | 0.9341 | pathogenic | -1.354 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.565608591 | 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.