Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34966 | 105121;105122;105123 | chr2:178531719;178531718;178531717 | chr2:179396446;179396445;179396444 |
| N2AB | 33325 | 100198;100199;100200 | chr2:178531719;178531718;178531717 | chr2:179396446;179396445;179396444 |
| N2A | 32398 | 97417;97418;97419 | chr2:178531719;178531718;178531717 | chr2:179396446;179396445;179396444 |
| N2B | 25901 | 77926;77927;77928 | chr2:178531719;178531718;178531717 | chr2:179396446;179396445;179396444 |
| Novex-1 | 26026 | 78301;78302;78303 | chr2:178531719;178531718;178531717 | chr2:179396446;179396445;179396444 |
| Novex-2 | 26093 | 78502;78503;78504 | chr2:178531719;178531718;178531717 | chr2:179396446;179396445;179396444 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs1689181377  |
None | 0.999 | D | 0.59 | 0.292 | 0.33835085245 | gnomAD-4.0.0 | 1.59088E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77239E-05 | None | 0 | 0 | 0 | 0 | 0 |
| Q/P | rs1225108277 |
0.005 | 0.999 | N | 0.651 | 0.596 | 0.551677396071 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| Q/P | rs1225108277 |
0.005 | 0.999 | N | 0.651 | 0.596 | 0.551677396071 | gnomAD-4.0.0 | 2.05242E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.6982E-06 | 0 | 0 |
| Q/R | rs1225108277 |
None | 0.997 | N | 0.489 | 0.433 | 0.255777322467 | gnomAD-4.0.0 | 1.36828E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99399E-07 | 1.15931E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.5827 | likely_pathogenic | 0.5769 | pathogenic | -0.37 | Destabilizing | 0.997 | D | 0.509 | neutral | None | None | None | None | I |
| Q/C | 0.9803 | likely_pathogenic | 0.9787 | pathogenic | 0.202 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| Q/D | 0.9221 | likely_pathogenic | 0.9208 | pathogenic | -0.185 | Destabilizing | 0.997 | D | 0.503 | neutral | None | None | None | None | I |
| Q/E | 0.3257 | likely_benign | 0.3164 | benign | -0.193 | Destabilizing | 0.992 | D | 0.343 | neutral | N | 0.432623191 | None | None | I |
| Q/F | 0.9549 | likely_pathogenic | 0.9609 | pathogenic | -0.425 | Destabilizing | 0.999 | D | 0.668 | neutral | None | None | None | None | I |
| Q/G | 0.8227 | likely_pathogenic | 0.8059 | pathogenic | -0.607 | Destabilizing | 0.997 | D | 0.528 | neutral | None | None | None | None | I |
| Q/H | 0.8096 | likely_pathogenic | 0.8103 | pathogenic | -0.6 | Destabilizing | 0.999 | D | 0.59 | neutral | D | 0.526613574 | None | None | I |
| Q/I | 0.7993 | likely_pathogenic | 0.8167 | pathogenic | 0.18 | Stabilizing | 0.999 | D | 0.673 | neutral | None | None | None | None | I |
| Q/K | 0.5403 | ambiguous | 0.5491 | ambiguous | -0.093 | Destabilizing | 0.997 | D | 0.439 | neutral | N | 0.485110882 | None | None | I |
| Q/L | 0.503 | ambiguous | 0.4974 | ambiguous | 0.18 | Stabilizing | 0.997 | D | 0.528 | neutral | N | 0.486844465 | None | None | I |
| Q/M | 0.6957 | likely_pathogenic | 0.6898 | pathogenic | 0.58 | Stabilizing | 0.999 | D | 0.591 | neutral | None | None | None | None | I |
| Q/N | 0.7457 | likely_pathogenic | 0.7635 | pathogenic | -0.394 | Destabilizing | 0.999 | D | 0.563 | neutral | None | None | None | None | I |
| Q/P | 0.9039 | likely_pathogenic | 0.9152 | pathogenic | 0.027 | Stabilizing | 0.999 | D | 0.651 | neutral | N | 0.483846359 | None | None | I |
| Q/R | 0.561 | ambiguous | 0.5425 | ambiguous | 0.041 | Stabilizing | 0.997 | D | 0.489 | neutral | N | 0.454462688 | None | None | I |
| Q/S | 0.5911 | likely_pathogenic | 0.5692 | pathogenic | -0.411 | Destabilizing | 0.997 | D | 0.469 | neutral | None | None | None | None | I |
| Q/T | 0.563 | ambiguous | 0.5655 | pathogenic | -0.256 | Destabilizing | 0.999 | D | 0.614 | neutral | None | None | None | None | I |
| Q/V | 0.6695 | likely_pathogenic | 0.6694 | pathogenic | 0.027 | Stabilizing | 0.999 | D | 0.555 | neutral | None | None | None | None | I |
| Q/W | 0.9719 | likely_pathogenic | 0.9708 | pathogenic | -0.348 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | I |
| Q/Y | 0.944 | likely_pathogenic | 0.9449 | pathogenic | -0.124 | Destabilizing | 0.999 | D | 0.655 | neutral | None | None | None | None | I |
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.