Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22164 | 66715;66716;66717 | chr2:178581778;178581777;178581776 | chr2:179446505;179446504;179446503 |
| N2AB | 20523 | 61792;61793;61794 | chr2:178581778;178581777;178581776 | chr2:179446505;179446504;179446503 |
| N2A | 19596 | 59011;59012;59013 | chr2:178581778;178581777;178581776 | chr2:179446505;179446504;179446503 |
| N2B | 13099 | 39520;39521;39522 | chr2:178581778;178581777;178581776 | chr2:179446505;179446504;179446503 |
| Novex-1 | 13224 | 39895;39896;39897 | chr2:178581778;178581777;178581776 | chr2:179446505;179446504;179446503 |
| Novex-2 | 13291 | 40096;40097;40098 | chr2:178581778;178581777;178581776 | chr2:179446505;179446504;179446503 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/I | rs371081043  |
0.561 | 1.0 | D | 0.911 | 0.442 | None | gnomAD-2.1.1 | 6.48E-05 | None | None | None | None | N | None | 6.97837E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.485E-04 |
| K/I | rs371081043 |
0.561 | 1.0 | D | 0.911 | 0.442 | None | gnomAD-3.1.2 | 1.51296E-04 | None | None | None | None | N | None | 5.31093E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| K/I | rs371081043 |
0.561 | 1.0 | D | 0.911 | 0.442 | None | gnomAD-4.0.0 | 3.0608E-05 | None | None | None | None | N | None | 6.18496E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.8459E-05 |
| K/Q | None | None | 1.0 | N | 0.714 | 0.338 | 0.218845423259 | gnomAD-4.0.0 | 1.62479E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.91267E-06 | 0 | 0 |
| K/T | rs371081043 |
-0.663 | 1.0 | N | 0.838 | 0.41 | 0.388334884743 | gnomAD-2.1.1 | 1.3E-05 | None | None | None | None | N | None | 0 | 9.47E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/T | rs371081043 |
-0.663 | 1.0 | N | 0.838 | 0.41 | 0.388334884743 | gnomAD-4.0.0 | 2.07058E-06 | None | None | None | None | N | None | 0 | 7.04358E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.7097 | likely_pathogenic | 0.716 | pathogenic | -0.42 | Destabilizing | 0.999 | D | 0.74 | deleterious | None | None | None | None | N |
| K/C | 0.8314 | likely_pathogenic | 0.8307 | pathogenic | -0.601 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| K/D | 0.9209 | likely_pathogenic | 0.9156 | pathogenic | -0.032 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| K/E | 0.577 | likely_pathogenic | 0.5451 | ambiguous | 0.106 | Stabilizing | 0.999 | D | 0.591 | neutral | N | 0.480501991 | None | None | N |
| K/F | 0.9469 | likely_pathogenic | 0.9369 | pathogenic | 0.007 | Stabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| K/G | 0.8482 | likely_pathogenic | 0.8511 | pathogenic | -0.799 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| K/H | 0.4621 | ambiguous | 0.4587 | ambiguous | -1.011 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| K/I | 0.6712 | likely_pathogenic | 0.6482 | pathogenic | 0.564 | Stabilizing | 1.0 | D | 0.911 | deleterious | D | 0.525986351 | None | None | N |
| K/L | 0.7331 | likely_pathogenic | 0.7275 | pathogenic | 0.564 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| K/M | 0.57 | likely_pathogenic | 0.5559 | ambiguous | 0.178 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| K/N | 0.8433 | likely_pathogenic | 0.8208 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.476941873 | None | None | N |
| K/P | 0.9874 | likely_pathogenic | 0.989 | pathogenic | 0.266 | Stabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| K/Q | 0.2983 | likely_benign | 0.2839 | benign | -0.496 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | N | 0.474152021 | None | None | N |
| K/R | 0.0864 | likely_benign | 0.087 | benign | -0.561 | Destabilizing | 0.999 | D | 0.536 | neutral | N | 0.469130204 | None | None | N |
| K/S | 0.7931 | likely_pathogenic | 0.7777 | pathogenic | -1.134 | Destabilizing | 0.999 | D | 0.674 | neutral | None | None | None | None | N |
| K/T | 0.4587 | ambiguous | 0.4475 | ambiguous | -0.784 | Destabilizing | 1.0 | D | 0.838 | deleterious | N | 0.507589805 | None | None | N |
| K/V | 0.5479 | ambiguous | 0.5347 | ambiguous | 0.266 | Stabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| K/W | 0.9362 | likely_pathogenic | 0.9312 | pathogenic | 0.066 | Stabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| K/Y | 0.8751 | likely_pathogenic | 0.8612 | pathogenic | 0.361 | Stabilizing | 1.0 | D | 0.891 | 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.