Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25688 | 77287;77288;77289 | chr2:178569070;178569069;178569068 | chr2:179433797;179433796;179433795 |
| N2AB | 24047 | 72364;72365;72366 | chr2:178569070;178569069;178569068 | chr2:179433797;179433796;179433795 |
| N2A | 23120 | 69583;69584;69585 | chr2:178569070;178569069;178569068 | chr2:179433797;179433796;179433795 |
| N2B | 16623 | 50092;50093;50094 | chr2:178569070;178569069;178569068 | chr2:179433797;179433796;179433795 |
| Novex-1 | 16748 | 50467;50468;50469 | chr2:178569070;178569069;178569068 | chr2:179433797;179433796;179433795 |
| Novex-2 | 16815 | 50668;50669;50670 | chr2:178569070;178569069;178569068 | chr2:179433797;179433796;179433795 |
| 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 | rs2154167487  |
None | None | N | 0.089 | 0.084 | 0.0762999501168 | gnomAD-4.0.0 | 1.59231E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85999E-06 | 0 | 0 |
| Q/R | None | None | None | N | 0.067 | 0.129 | 0.0297737177859 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.113 | likely_benign | 0.1137 | benign | -0.571 | Destabilizing | None | N | 0.152 | neutral | None | None | None | None | N |
| Q/C | 0.2818 | likely_benign | 0.3712 | ambiguous | 0.021 | Stabilizing | None | N | 0.236 | neutral | None | None | None | None | N |
| Q/D | 0.2251 | likely_benign | 0.2168 | benign | -0.033 | Destabilizing | None | N | 0.137 | neutral | None | None | None | None | N |
| Q/E | 0.0655 | likely_benign | 0.0589 | benign | 0.044 | Stabilizing | None | N | 0.071 | neutral | N | 0.298676405 | None | None | N |
| Q/F | 0.386 | ambiguous | 0.45 | ambiguous | -0.321 | Destabilizing | None | N | 0.429 | neutral | None | None | None | None | N |
| Q/G | 0.1773 | likely_benign | 0.213 | benign | -0.89 | Destabilizing | None | N | 0.259 | neutral | None | None | None | None | N |
| Q/H | 0.1352 | likely_benign | 0.1349 | benign | -0.507 | Destabilizing | None | N | 0.089 | neutral | N | 0.486577027 | None | None | N |
| Q/I | 0.197 | likely_benign | 0.2094 | benign | 0.227 | Stabilizing | None | N | 0.417 | neutral | None | None | None | None | N |
| Q/K | 0.0915 | likely_benign | 0.1048 | benign | -0.176 | Destabilizing | None | N | 0.065 | neutral | N | 0.420352035 | None | None | N |
| Q/L | 0.0961 | likely_benign | 0.0992 | benign | 0.227 | Stabilizing | None | N | 0.251 | neutral | N | 0.427971441 | None | None | N |
| Q/M | 0.2129 | likely_benign | 0.2215 | benign | 0.441 | Stabilizing | 0.025 | N | 0.305 | neutral | None | None | None | None | N |
| Q/N | 0.1698 | likely_benign | 0.1633 | benign | -0.657 | Destabilizing | None | N | 0.159 | neutral | None | None | None | None | N |
| Q/P | 0.1674 | likely_benign | 0.1559 | benign | -0.009 | Destabilizing | None | N | 0.265 | neutral | N | 0.419197242 | None | None | N |
| Q/R | 0.0977 | likely_benign | 0.1233 | benign | -0.051 | Destabilizing | None | N | 0.067 | neutral | N | 0.449058789 | None | None | N |
| Q/S | 0.132 | likely_benign | 0.1316 | benign | -0.775 | Destabilizing | None | N | 0.132 | neutral | None | None | None | None | N |
| Q/T | 0.1141 | likely_benign | 0.1189 | benign | -0.504 | Destabilizing | None | N | 0.22 | neutral | None | None | None | None | N |
| Q/V | 0.123 | likely_benign | 0.1185 | benign | -0.009 | Destabilizing | None | N | 0.328 | neutral | None | None | None | None | N |
| Q/W | 0.3831 | ambiguous | 0.4883 | ambiguous | -0.2 | Destabilizing | 0.02 | N | 0.591 | neutral | None | None | None | None | N |
| Q/Y | 0.2509 | likely_benign | 0.2748 | benign | 0.008 | Stabilizing | None | N | 0.132 | 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.