Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33112 | 99559;99560;99561 | chr2:178537873;178537872;178537871 | chr2:179402600;179402599;179402598 |
| N2AB | 31471 | 94636;94637;94638 | chr2:178537873;178537872;178537871 | chr2:179402600;179402599;179402598 |
| N2A | 30544 | 91855;91856;91857 | chr2:178537873;178537872;178537871 | chr2:179402600;179402599;179402598 |
| N2B | 24047 | 72364;72365;72366 | chr2:178537873;178537872;178537871 | chr2:179402600;179402599;179402598 |
| Novex-1 | 24172 | 72739;72740;72741 | chr2:178537873;178537872;178537871 | chr2:179402600;179402599;179402598 |
| Novex-2 | 24239 | 72940;72941;72942 | chr2:178537873;178537872;178537871 | chr2:179402600;179402599;179402598 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs761837150  |
-0.989 | 0.288 | N | 0.486 | 0.225 | 0.252162846088 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| T/A | rs761837150 |
-0.989 | 0.288 | N | 0.486 | 0.225 | 0.252162846088 | gnomAD-4.0.0 | 1.5927E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43382E-05 | 0 |
| T/K | rs374883160 |
-0.985 | 0.976 | N | 0.748 | 0.515 | None | gnomAD-2.1.1 | 3.23E-05 | None | None | None | None | N | None | 6.48E-05 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 4.66E-05 | 3.57E-05 | 1.66667E-04 |
| T/K | rs374883160 |
-0.985 | 0.976 | N | 0.748 | 0.515 | None | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 4.78011E-04 |
| T/K | rs374883160 |
-0.985 | 0.976 | N | 0.748 | 0.515 | None | gnomAD-4.0.0 | 4.02945E-05 | None | None | None | None | N | None | 2.67123E-05 | 3.33656E-05 | None | 0 | 0 | None | 0 | 0 | 4.57827E-05 | 1.09859E-05 | 9.60922E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0697 | likely_benign | 0.0746 | benign | -0.923 | Destabilizing | 0.288 | N | 0.486 | neutral | N | 0.406436667 | None | None | N |
| T/C | 0.4253 | ambiguous | 0.4566 | ambiguous | -0.892 | Destabilizing | 0.998 | D | 0.651 | neutral | None | None | None | None | N |
| T/D | 0.8563 | likely_pathogenic | 0.8621 | pathogenic | -1.466 | Destabilizing | 0.921 | D | 0.749 | deleterious | None | None | None | None | N |
| T/E | 0.7245 | likely_pathogenic | 0.7261 | pathogenic | -1.404 | Destabilizing | 0.992 | D | 0.751 | deleterious | None | None | None | None | N |
| T/F | 0.7239 | likely_pathogenic | 0.7198 | pathogenic | -0.892 | Destabilizing | 0.986 | D | 0.745 | deleterious | None | None | None | None | N |
| T/G | 0.3468 | ambiguous | 0.3736 | ambiguous | -1.222 | Destabilizing | 0.99 | D | 0.727 | prob.delet. | None | None | None | None | N |
| T/H | 0.7002 | likely_pathogenic | 0.7226 | pathogenic | -1.496 | Destabilizing | 0.998 | D | 0.688 | prob.neutral | None | None | None | None | N |
| T/I | 0.394 | ambiguous | 0.3954 | ambiguous | -0.195 | Destabilizing | 0.04 | N | 0.364 | neutral | N | 0.420424685 | None | None | N |
| T/K | 0.5589 | ambiguous | 0.561 | ambiguous | -0.893 | Destabilizing | 0.976 | D | 0.748 | deleterious | N | 0.497618819 | None | None | N |
| T/L | 0.2495 | likely_benign | 0.2712 | benign | -0.195 | Destabilizing | 0.57 | D | 0.479 | neutral | None | None | None | None | N |
| T/M | 0.1757 | likely_benign | 0.1859 | benign | 0.041 | Stabilizing | 0.99 | D | 0.687 | prob.neutral | None | None | None | None | N |
| T/N | 0.4583 | ambiguous | 0.475 | ambiguous | -1.176 | Destabilizing | 0.973 | D | 0.762 | deleterious | None | None | None | None | N |
| T/P | 0.7986 | likely_pathogenic | 0.7954 | pathogenic | -0.406 | Destabilizing | 0.964 | D | 0.734 | prob.delet. | D | 0.527421651 | None | None | N |
| T/Q | 0.5236 | ambiguous | 0.541 | ambiguous | -1.331 | Destabilizing | 0.987 | D | 0.727 | prob.delet. | None | None | None | None | N |
| T/R | 0.4413 | ambiguous | 0.4474 | ambiguous | -0.687 | Destabilizing | 0.991 | D | 0.73 | prob.delet. | N | 0.482092006 | None | None | N |
| T/S | 0.1999 | likely_benign | 0.2109 | benign | -1.32 | Destabilizing | 0.45 | N | 0.577 | neutral | N | 0.452289174 | None | None | N |
| T/V | 0.2028 | likely_benign | 0.2097 | benign | -0.406 | Destabilizing | 0.281 | N | 0.497 | neutral | None | None | None | None | N |
| T/W | 0.9469 | likely_pathogenic | 0.9457 | pathogenic | -0.908 | Destabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | N |
| T/Y | 0.7955 | likely_pathogenic | 0.8024 | pathogenic | -0.602 | Destabilizing | 0.993 | D | 0.747 | 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.