Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31826 | 95701;95702;95703 | chr2:178545634;178545633;178545632 | chr2:179410361;179410360;179410359 |
| N2AB | 30185 | 90778;90779;90780 | chr2:178545634;178545633;178545632 | chr2:179410361;179410360;179410359 |
| N2A | 29258 | 87997;87998;87999 | chr2:178545634;178545633;178545632 | chr2:179410361;179410360;179410359 |
| N2B | 22761 | 68506;68507;68508 | chr2:178545634;178545633;178545632 | chr2:179410361;179410360;179410359 |
| Novex-1 | 22886 | 68881;68882;68883 | chr2:178545634;178545633;178545632 | chr2:179410361;179410360;179410359 |
| Novex-2 | 22953 | 69082;69083;69084 | chr2:178545634;178545633;178545632 | chr2:179410361;179410360;179410359 |
| 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/F | rs1441494363  |
-1.745 | 0.997 | N | 0.644 | 0.391 | 0.672392681923 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 2.29568E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/F | rs1441494363 |
-1.745 | 0.997 | N | 0.644 | 0.391 | 0.672392681923 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/F | rs1441494363 |
-1.745 | 0.997 | N | 0.644 | 0.391 | 0.672392681923 | gnomAD-4.0.0 | 2.62784E-05 | None | None | None | None | N | None | 9.64599E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs1441494363 |
None | 0.889 | N | 0.263 | 0.159 | 0.407357902709 | gnomAD-4.0.0 | 1.36846E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51927E-05 | None | 0 | 0 | 8.9952E-07 | 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 | 0.9631 | likely_pathogenic | 0.9629 | pathogenic | -3.068 | Highly Destabilizing | 0.996 | D | 0.735 | prob.delet. | None | None | None | None | N |
| I/C | 0.953 | likely_pathogenic | 0.9547 | pathogenic | -2.084 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| I/D | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -3.823 | Highly Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| I/E | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | -3.503 | Highly Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| I/F | 0.5963 | likely_pathogenic | 0.5843 | pathogenic | -1.947 | Destabilizing | 0.997 | D | 0.644 | neutral | N | 0.491359144 | None | None | N |
| I/G | 0.9956 | likely_pathogenic | 0.9953 | pathogenic | -3.654 | Highly Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| I/H | 0.9972 | likely_pathogenic | 0.9965 | pathogenic | -3.269 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| I/K | 0.9964 | likely_pathogenic | 0.9957 | pathogenic | -2.589 | Highly Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| I/L | 0.1222 | likely_benign | 0.118 | benign | -1.283 | Destabilizing | 0.104 | N | 0.241 | neutral | N | 0.374376524 | None | None | N |
| I/M | 0.2974 | likely_benign | 0.3101 | benign | -1.298 | Destabilizing | 0.997 | D | 0.642 | neutral | N | 0.475736878 | None | None | N |
| I/N | 0.9946 | likely_pathogenic | 0.9937 | pathogenic | -3.352 | Highly Destabilizing | 0.999 | D | 0.93 | deleterious | N | 0.510730846 | None | None | N |
| I/P | 0.9977 | likely_pathogenic | 0.9969 | pathogenic | -1.872 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| I/Q | 0.9959 | likely_pathogenic | 0.995 | pathogenic | -3.0 | Highly Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | N |
| I/R | 0.9943 | likely_pathogenic | 0.9927 | pathogenic | -2.549 | Highly Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | N |
| I/S | 0.9872 | likely_pathogenic | 0.9855 | pathogenic | -3.846 | Highly Destabilizing | 0.999 | D | 0.846 | deleterious | N | 0.510730846 | None | None | N |
| I/T | 0.9587 | likely_pathogenic | 0.9596 | pathogenic | -3.369 | Highly Destabilizing | 0.998 | D | 0.738 | prob.delet. | N | 0.510477357 | None | None | N |
| I/V | 0.1372 | likely_benign | 0.1547 | benign | -1.872 | Destabilizing | 0.889 | D | 0.263 | neutral | N | 0.405169152 | None | None | N |
| I/W | 0.9941 | likely_pathogenic | 0.9924 | pathogenic | -2.325 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| I/Y | 0.9774 | likely_pathogenic | 0.975 | pathogenic | -2.168 | Highly Destabilizing | 1.0 | D | 0.749 | 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.