Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27525 | 82798;82799;82800 | chr2:178563559;178563558;178563557 | chr2:179428286;179428285;179428284 |
| N2AB | 25884 | 77875;77876;77877 | chr2:178563559;178563558;178563557 | chr2:179428286;179428285;179428284 |
| N2A | 24957 | 75094;75095;75096 | chr2:178563559;178563558;178563557 | chr2:179428286;179428285;179428284 |
| N2B | 18460 | 55603;55604;55605 | chr2:178563559;178563558;178563557 | chr2:179428286;179428285;179428284 |
| Novex-1 | 18585 | 55978;55979;55980 | chr2:178563559;178563558;178563557 | chr2:179428286;179428285;179428284 |
| Novex-2 | 18652 | 56179;56180;56181 | chr2:178563559;178563558;178563557 | chr2:179428286;179428285;179428284 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/M | rs1321989289  |
-0.135 | 0.999 | N | 0.353 | 0.308 | 0.600746198033 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| T/M | rs1321989289 |
-0.135 | 0.999 | N | 0.353 | 0.308 | 0.600746198033 | gnomAD-4.0.0 | 4.78947E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.04007E-05 | None | 0 | 0 | 3.59791E-06 | 0 | 1.65656E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0842 | likely_benign | 0.0807 | benign | -0.57 | Destabilizing | 0.003 | N | 0.081 | neutral | N | 0.484601089 | None | None | N |
| T/C | 0.3414 | ambiguous | 0.3252 | benign | -0.457 | Destabilizing | 0.987 | D | 0.35 | neutral | None | None | None | None | N |
| T/D | 0.4445 | ambiguous | 0.4112 | ambiguous | 0.457 | Stabilizing | 0.59 | D | 0.267 | neutral | None | None | None | None | N |
| T/E | 0.3699 | ambiguous | 0.3369 | benign | 0.429 | Stabilizing | 0.742 | D | 0.269 | neutral | None | None | None | None | N |
| T/F | 0.2694 | likely_benign | 0.2505 | benign | -0.898 | Destabilizing | 0.953 | D | 0.385 | neutral | None | None | None | None | N |
| T/G | 0.157 | likely_benign | 0.1594 | benign | -0.753 | Destabilizing | 0.373 | N | 0.261 | neutral | None | None | None | None | N |
| T/H | 0.1968 | likely_benign | 0.1871 | benign | -0.884 | Destabilizing | 0.953 | D | 0.371 | neutral | None | None | None | None | N |
| T/I | 0.2319 | likely_benign | 0.1969 | benign | -0.192 | Destabilizing | 0.91 | D | 0.353 | neutral | None | None | None | None | N |
| T/K | 0.159 | likely_benign | 0.151 | benign | -0.319 | Destabilizing | 0.846 | D | 0.261 | neutral | N | 0.48592924 | None | None | N |
| T/L | 0.1003 | likely_benign | 0.0915 | benign | -0.192 | Destabilizing | 0.59 | D | 0.265 | neutral | None | None | None | None | N |
| T/M | 0.0959 | likely_benign | 0.0936 | benign | -0.196 | Destabilizing | 0.999 | D | 0.353 | neutral | N | 0.490125512 | None | None | N |
| T/N | 0.1113 | likely_benign | 0.1064 | benign | -0.25 | Destabilizing | 0.016 | N | 0.081 | neutral | None | None | None | None | N |
| T/P | 0.0841 | likely_benign | 0.0833 | benign | -0.287 | Destabilizing | 0.939 | D | 0.357 | neutral | N | 0.488950903 | None | None | N |
| T/Q | 0.1869 | likely_benign | 0.1794 | benign | -0.378 | Destabilizing | 0.953 | D | 0.355 | neutral | None | None | None | None | N |
| T/R | 0.1338 | likely_benign | 0.13 | benign | -0.09 | Destabilizing | 0.975 | D | 0.349 | neutral | N | 0.497666386 | None | None | N |
| T/S | 0.096 | likely_benign | 0.0967 | benign | -0.556 | Destabilizing | 0.078 | N | 0.097 | neutral | N | 0.445429412 | None | None | N |
| T/V | 0.1598 | likely_benign | 0.1392 | benign | -0.287 | Destabilizing | 0.59 | D | 0.21 | neutral | None | None | None | None | N |
| T/W | 0.491 | ambiguous | 0.483 | ambiguous | -0.867 | Destabilizing | 0.996 | D | 0.501 | neutral | None | None | None | None | N |
| T/Y | 0.2563 | likely_benign | 0.2361 | benign | -0.584 | Destabilizing | 0.984 | D | 0.379 | 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.