Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16456 | 49591;49592;49593 | chr2:178613917;178613916;178613915 | chr2:179478644;179478643;179478642 |
| N2AB | 14815 | 44668;44669;44670 | chr2:178613917;178613916;178613915 | chr2:179478644;179478643;179478642 |
| N2A | 13888 | 41887;41888;41889 | chr2:178613917;178613916;178613915 | chr2:179478644;179478643;179478642 |
| N2B | 7391 | 22396;22397;22398 | chr2:178613917;178613916;178613915 | chr2:179478644;179478643;179478642 |
| Novex-1 | 7516 | 22771;22772;22773 | chr2:178613917;178613916;178613915 | chr2:179478644;179478643;179478642 |
| Novex-2 | 7583 | 22972;22973;22974 | chr2:178613917;178613916;178613915 | chr2:179478644;179478643;179478642 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs727504986  |
0.097 | 0.996 | N | 0.339 | 0.344 | 0.565096191312 | gnomAD-2.1.1 | 1.09E-05 | None | None | None | None | N | None | 4.15E-05 | 0 | None | 0 | 1.03896E-04 | None | 0 | None | 0 | 0 | 0 |
| R/C | rs727504986 |
0.097 | 0.996 | N | 0.339 | 0.344 | 0.565096191312 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 3.90168E-04 | None | 0 | 0 | 0 | 0 | 0 |
| R/C | rs727504986 |
0.097 | 0.996 | N | 0.339 | 0.344 | 0.565096191312 | gnomAD-4.0.0 | 9.32791E-06 | None | None | None | None | N | None | 4.02361E-05 | 1.68606E-05 | None | 0 | 1.11862E-04 | None | 0 | 0 | 4.24812E-06 | 1.10924E-05 | 0 |
| R/H | rs768914789 |
-0.636 | 0.956 | N | 0.478 | 0.131 | None | gnomAD-2.1.1 | 5.45E-05 | None | None | None | None | N | None | 1.66003E-04 | 2.9E-05 | None | 0 | 1.55699E-04 | None | 1.7052E-04 | None | 0 | 1.58E-05 | 0 |
| R/H | rs768914789 |
-0.636 | 0.956 | N | 0.478 | 0.131 | None | gnomAD-3.1.2 | 5.27E-05 | None | None | None | None | N | None | 1.69213E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07727E-04 | 0 |
| R/H | rs768914789 |
-0.636 | 0.956 | N | 0.478 | 0.131 | None | gnomAD-4.0.0 | 3.04784E-05 | None | None | None | None | N | None | 1.74352E-04 | 1.68754E-05 | None | 0 | 1.78995E-04 | None | 0 | 0 | 1.52946E-05 | 8.88533E-05 | 1.60829E-05 |
| R/L | rs768914789 |
0.579 | 0.579 | N | 0.46 | 0.211 | 0.454426139905 | gnomAD-2.1.1 | 8.2E-06 | None | None | None | None | N | None | 6.5E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.02E-06 | 0 |
| R/L | rs768914789 |
0.579 | 0.579 | N | 0.46 | 0.211 | 0.454426139905 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/L | rs768914789 |
0.579 | 0.579 | N | 0.46 | 0.211 | 0.454426139905 | gnomAD-4.0.0 | 3.11004E-06 | None | None | None | None | N | None | 1.34117E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39881E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.3757 | ambiguous | 0.372 | ambiguous | -0.048 | Destabilizing | 0.129 | N | 0.405 | neutral | None | None | None | None | N |
| R/C | 0.1952 | likely_benign | 0.2122 | benign | -0.072 | Destabilizing | 0.996 | D | 0.339 | neutral | N | 0.483990372 | None | None | N |
| R/D | 0.5318 | ambiguous | 0.5218 | ambiguous | -0.147 | Destabilizing | 0.264 | N | 0.42 | neutral | None | None | None | None | N |
| R/E | 0.4111 | ambiguous | 0.4088 | ambiguous | -0.095 | Destabilizing | 0.129 | N | 0.391 | neutral | None | None | None | None | N |
| R/F | 0.5925 | likely_pathogenic | 0.5899 | pathogenic | -0.278 | Destabilizing | 0.94 | D | 0.364 | neutral | None | None | None | None | N |
| R/G | 0.2748 | likely_benign | 0.2779 | benign | -0.236 | Destabilizing | 0.002 | N | 0.221 | neutral | N | 0.457904476 | None | None | N |
| R/H | 0.1177 | likely_benign | 0.1196 | benign | -0.71 | Destabilizing | 0.956 | D | 0.478 | neutral | N | 0.480126209 | None | None | N |
| R/I | 0.369 | ambiguous | 0.3696 | ambiguous | 0.411 | Stabilizing | 0.836 | D | 0.391 | neutral | None | None | None | None | N |
| R/K | 0.1219 | likely_benign | 0.1166 | benign | -0.082 | Destabilizing | 0.001 | N | 0.171 | neutral | None | None | None | None | N |
| R/L | 0.3049 | likely_benign | 0.298 | benign | 0.411 | Stabilizing | 0.579 | D | 0.46 | neutral | N | 0.477589604 | None | None | N |
| R/M | 0.3134 | likely_benign | 0.3254 | benign | 0.092 | Stabilizing | 0.94 | D | 0.419 | neutral | None | None | None | None | N |
| R/N | 0.3879 | ambiguous | 0.4253 | ambiguous | 0.243 | Stabilizing | 0.001 | N | 0.188 | neutral | None | None | None | None | N |
| R/P | 0.8712 | likely_pathogenic | 0.8088 | pathogenic | 0.278 | Stabilizing | 0.907 | D | 0.423 | neutral | N | 0.466032652 | None | None | N |
| R/Q | 0.1179 | likely_benign | 0.1217 | benign | 0.088 | Stabilizing | 0.264 | N | 0.482 | neutral | None | None | None | None | N |
| R/S | 0.4052 | ambiguous | 0.4107 | ambiguous | -0.117 | Destabilizing | 0.221 | N | 0.383 | neutral | N | 0.464115434 | None | None | N |
| R/T | 0.2814 | likely_benign | 0.2691 | benign | 0.06 | Stabilizing | 0.418 | N | 0.429 | neutral | None | None | None | None | N |
| R/V | 0.4016 | ambiguous | 0.3863 | ambiguous | 0.278 | Stabilizing | 0.418 | N | 0.446 | neutral | None | None | None | None | N |
| R/W | 0.3052 | likely_benign | 0.2918 | benign | -0.313 | Destabilizing | 0.983 | D | 0.391 | neutral | None | None | None | None | N |
| R/Y | 0.4087 | ambiguous | 0.4111 | ambiguous | 0.085 | Stabilizing | 0.94 | D | 0.395 | 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.