Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14587 | 43984;43985;43986 | chr2:178631289;178631288;178631287 | chr2:179496016;179496015;179496014 |
| N2AB | 12946 | 39061;39062;39063 | chr2:178631289;178631288;178631287 | chr2:179496016;179496015;179496014 |
| N2A | 12019 | 36280;36281;36282 | chr2:178631289;178631288;178631287 | chr2:179496016;179496015;179496014 |
| N2B | 5522 | 16789;16790;16791 | chr2:178631289;178631288;178631287 | chr2:179496016;179496015;179496014 |
| Novex-1 | 5647 | 17164;17165;17166 | chr2:178631289;178631288;178631287 | chr2:179496016;179496015;179496014 |
| Novex-2 | 5714 | 17365;17366;17367 | chr2:178631289;178631288;178631287 | chr2:179496016;179496015;179496014 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | rs774085986  |
-0.943 | 1.0 | N | 0.705 | 0.448 | 0.488616904302 | gnomAD-2.1.1 | 1.84E-05 | None | None | None | None | N | None | 4.19E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.23E-05 | 0 |
| Y/H | rs774085986 |
-0.943 | 1.0 | N | 0.705 | 0.448 | 0.488616904302 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | rs774085986 |
-0.943 | 1.0 | N | 0.705 | 0.448 | 0.488616904302 | gnomAD-4.0.0 | 8.70502E-06 | None | None | None | None | N | None | 1.33668E-05 | 1.67718E-05 | None | 0 | 0 | None | 0 | 0 | 1.01853E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.5755 | likely_pathogenic | 0.5365 | ambiguous | -1.678 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| Y/C | 0.1909 | likely_benign | 0.1877 | benign | -0.423 | Destabilizing | 1.0 | D | 0.75 | deleterious | D | 0.562573217 | None | None | N |
| Y/D | 0.4742 | ambiguous | 0.4653 | ambiguous | 0.175 | Stabilizing | 1.0 | D | 0.802 | deleterious | N | 0.506409916 | None | None | N |
| Y/E | 0.7813 | likely_pathogenic | 0.7405 | pathogenic | 0.228 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| Y/F | 0.1431 | likely_benign | 0.1277 | benign | -0.692 | Destabilizing | 0.999 | D | 0.447 | neutral | N | 0.510014362 | None | None | N |
| Y/G | 0.6232 | likely_pathogenic | 0.6031 | pathogenic | -1.959 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| Y/H | 0.2806 | likely_benign | 0.2553 | benign | -0.468 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | N | 0.505466324 | None | None | N |
| Y/I | 0.5245 | ambiguous | 0.499 | ambiguous | -0.868 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| Y/K | 0.7504 | likely_pathogenic | 0.7144 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| Y/L | 0.5477 | ambiguous | 0.5359 | ambiguous | -0.868 | Destabilizing | 0.999 | D | 0.646 | neutral | None | None | None | None | N |
| Y/M | 0.7555 | likely_pathogenic | 0.7371 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| Y/N | 0.311 | likely_benign | 0.2947 | benign | -0.824 | Destabilizing | 1.0 | D | 0.77 | deleterious | N | 0.50727061 | None | None | N |
| Y/P | 0.9382 | likely_pathogenic | 0.9558 | pathogenic | -1.127 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| Y/Q | 0.6857 | likely_pathogenic | 0.6345 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| Y/R | 0.5176 | ambiguous | 0.4665 | ambiguous | -0.212 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| Y/S | 0.2474 | likely_benign | 0.2297 | benign | -1.375 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.491412911 | None | None | N |
| Y/T | 0.5034 | ambiguous | 0.4776 | ambiguous | -1.23 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| Y/V | 0.373 | ambiguous | 0.3406 | ambiguous | -1.127 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| Y/W | 0.552 | ambiguous | 0.5454 | ambiguous | -0.461 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | 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.