Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29425 | 88498;88499;88500 | chr2:178556881;178556880;178556879 | chr2:179421608;179421607;179421606 |
| N2AB | 27784 | 83575;83576;83577 | chr2:178556881;178556880;178556879 | chr2:179421608;179421607;179421606 |
| N2A | 26857 | 80794;80795;80796 | chr2:178556881;178556880;178556879 | chr2:179421608;179421607;179421606 |
| N2B | 20360 | 61303;61304;61305 | chr2:178556881;178556880;178556879 | chr2:179421608;179421607;179421606 |
| Novex-1 | 20485 | 61678;61679;61680 | chr2:178556881;178556880;178556879 | chr2:179421608;179421607;179421606 |
| Novex-2 | 20552 | 61879;61880;61881 | chr2:178556881;178556880;178556879 | chr2:179421608;179421607;179421606 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/D | None | None | 0.177 | N | 0.705 | 0.154 | 0.275215494804 | gnomAD-4.0.0 | 3.18286E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71602E-06 | 0 | 0 |
| V/F | rs1701721466  |
None | 0.177 | N | 0.758 | 0.03 | 0.235038932564 | gnomAD-4.0.0 | 2.73695E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.63736E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0809 | likely_benign | 0.0869 | benign | -1.086 | Destabilizing | None | N | 0.209 | neutral | N | 0.421690468 | None | None | N |
| V/C | 0.5729 | likely_pathogenic | 0.5717 | pathogenic | -0.719 | Destabilizing | 0.685 | D | 0.644 | neutral | None | None | None | None | N |
| V/D | 0.2399 | likely_benign | 0.2186 | benign | -0.518 | Destabilizing | 0.177 | N | 0.705 | prob.delet. | N | 0.507117297 | None | None | N |
| V/E | 0.2364 | likely_benign | 0.2135 | benign | -0.505 | Destabilizing | 0.039 | N | 0.644 | neutral | None | None | None | None | N |
| V/F | 0.1884 | likely_benign | 0.1555 | benign | -0.72 | Destabilizing | 0.177 | N | 0.758 | deleterious | N | 0.493206637 | None | None | N |
| V/G | 0.1623 | likely_benign | 0.1595 | benign | -1.389 | Destabilizing | 0.03 | N | 0.637 | neutral | N | 0.507117297 | None | None | N |
| V/H | 0.4544 | ambiguous | 0.4222 | ambiguous | -0.73 | Destabilizing | 0.685 | D | 0.645 | neutral | None | None | None | None | N |
| V/I | 0.0765 | likely_benign | 0.0694 | benign | -0.366 | Destabilizing | None | N | 0.169 | neutral | N | 0.401757913 | None | None | N |
| V/K | 0.2853 | likely_benign | 0.2637 | benign | -0.799 | Destabilizing | 0.039 | N | 0.643 | neutral | None | None | None | None | N |
| V/L | 0.174 | likely_benign | 0.1477 | benign | -0.366 | Destabilizing | None | N | 0.211 | neutral | N | 0.429136516 | None | None | N |
| V/M | 0.1255 | likely_benign | 0.1167 | benign | -0.391 | Destabilizing | 0.221 | N | 0.585 | neutral | None | None | None | None | N |
| V/N | 0.1697 | likely_benign | 0.1583 | benign | -0.683 | Destabilizing | 0.125 | N | 0.705 | prob.delet. | None | None | None | None | N |
| V/P | 0.1741 | likely_benign | 0.1751 | benign | -0.57 | Destabilizing | 0.221 | N | 0.68 | prob.neutral | None | None | None | None | N |
| V/Q | 0.2818 | likely_benign | 0.2674 | benign | -0.789 | Destabilizing | 0.221 | N | 0.654 | prob.neutral | None | None | None | None | N |
| V/R | 0.2721 | likely_benign | 0.241 | benign | -0.343 | Destabilizing | 0.221 | N | 0.699 | prob.delet. | None | None | None | None | N |
| V/S | 0.1227 | likely_benign | 0.1243 | benign | -1.239 | Destabilizing | None | N | 0.638 | neutral | None | None | None | None | N |
| V/T | 0.0914 | likely_benign | 0.0935 | benign | -1.106 | Destabilizing | 0.001 | N | 0.261 | neutral | None | None | None | None | N |
| V/W | 0.7412 | likely_pathogenic | 0.6993 | pathogenic | -0.889 | Destabilizing | 0.869 | D | 0.682 | prob.neutral | None | None | None | None | N |
| V/Y | 0.4508 | ambiguous | 0.4106 | ambiguous | -0.572 | Destabilizing | 0.366 | N | 0.723 | 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.