Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27112 | 81559;81560;81561 | chr2:178564798;178564797;178564796 | chr2:179429525;179429524;179429523 |
| N2AB | 25471 | 76636;76637;76638 | chr2:178564798;178564797;178564796 | chr2:179429525;179429524;179429523 |
| N2A | 24544 | 73855;73856;73857 | chr2:178564798;178564797;178564796 | chr2:179429525;179429524;179429523 |
| N2B | 18047 | 54364;54365;54366 | chr2:178564798;178564797;178564796 | chr2:179429525;179429524;179429523 |
| Novex-1 | 18172 | 54739;54740;54741 | chr2:178564798;178564797;178564796 | chr2:179429525;179429524;179429523 |
| Novex-2 | 18239 | 54940;54941;54942 | chr2:178564798;178564797;178564796 | chr2:179429525;179429524;179429523 |
| 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/E | rs534444792  |
-1.074 | 0.958 | N | 0.447 | 0.397 | 0.374255764437 | gnomAD-2.1.1 | 8.18E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.57E-05 | None | 0 | 0 | 0 |
| K/E | rs534444792 |
-1.074 | 0.958 | N | 0.447 | 0.397 | 0.374255764437 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| K/E | rs534444792 |
-1.074 | 0.958 | N | 0.447 | 0.397 | 0.374255764437 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| K/E | rs534444792 |
-1.074 | 0.958 | N | 0.447 | 0.397 | 0.374255764437 | gnomAD-4.0.0 | 5.13197E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.02576E-05 | 2.84884E-05 |
| K/T | None | None | 0.988 | N | 0.731 | 0.511 | 0.447410926215 | gnomAD-4.0.0 | 1.5946E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86305E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.9901 | likely_pathogenic | 0.9884 | pathogenic | -1.404 | Destabilizing | 0.968 | D | 0.558 | neutral | None | None | None | None | N |
| K/C | 0.9796 | likely_pathogenic | 0.9707 | pathogenic | -1.527 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| K/D | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -1.71 | Destabilizing | 0.995 | D | 0.82 | deleterious | None | None | None | None | N |
| K/E | 0.9855 | likely_pathogenic | 0.9822 | pathogenic | -1.466 | Destabilizing | 0.958 | D | 0.447 | neutral | N | 0.510793299 | None | None | N |
| K/F | 0.998 | likely_pathogenic | 0.9968 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| K/G | 0.9909 | likely_pathogenic | 0.9898 | pathogenic | -1.817 | Destabilizing | 0.991 | D | 0.716 | prob.delet. | None | None | None | None | N |
| K/H | 0.9328 | likely_pathogenic | 0.906 | pathogenic | -2.071 | Highly Destabilizing | 0.999 | D | 0.801 | deleterious | None | None | None | None | N |
| K/I | 0.9923 | likely_pathogenic | 0.9917 | pathogenic | -0.254 | Destabilizing | 0.994 | D | 0.865 | deleterious | D | 0.53092547 | None | None | N |
| K/L | 0.9718 | likely_pathogenic | 0.9727 | pathogenic | -0.254 | Destabilizing | 0.991 | D | 0.716 | prob.delet. | None | None | None | None | N |
| K/M | 0.9394 | likely_pathogenic | 0.9302 | pathogenic | -0.624 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| K/N | 0.9947 | likely_pathogenic | 0.9935 | pathogenic | -1.517 | Destabilizing | 0.988 | D | 0.645 | neutral | N | 0.508048275 | None | None | N |
| K/P | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -0.616 | Destabilizing | 0.998 | D | 0.833 | deleterious | None | None | None | None | N |
| K/Q | 0.8644 | likely_pathogenic | 0.8358 | pathogenic | -1.289 | Destabilizing | 0.988 | D | 0.619 | neutral | N | 0.48031878 | None | None | N |
| K/R | 0.1581 | likely_benign | 0.144 | benign | -1.051 | Destabilizing | 0.142 | N | 0.218 | neutral | N | 0.485598379 | None | None | N |
| K/S | 0.9961 | likely_pathogenic | 0.9946 | pathogenic | -2.033 | Highly Destabilizing | 0.968 | D | 0.52 | neutral | None | None | None | None | N |
| K/T | 0.99 | likely_pathogenic | 0.9874 | pathogenic | -1.563 | Destabilizing | 0.988 | D | 0.731 | prob.delet. | N | 0.519151091 | None | None | N |
| K/V | 0.9865 | likely_pathogenic | 0.9847 | pathogenic | -0.616 | Destabilizing | 0.995 | D | 0.828 | deleterious | None | None | None | None | N |
| K/W | 0.9965 | likely_pathogenic | 0.9941 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| K/Y | 0.9901 | likely_pathogenic | 0.9839 | pathogenic | -0.582 | Destabilizing | 0.998 | D | 0.856 | 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.