Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6240 | 18943;18944;18945 | chr2:178729438;178729437;178729436 | chr2:179594165;179594164;179594163 |
| N2AB | 5923 | 17992;17993;17994 | chr2:178729438;178729437;178729436 | chr2:179594165;179594164;179594163 |
| N2A | 4996 | 15211;15212;15213 | chr2:178729438;178729437;178729436 | chr2:179594165;179594164;179594163 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/L | rs761993856  |
0.295 | 0.837 | N | 0.373 | 0.243 | 0.622442570095 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/L | rs761993856 |
0.295 | 0.837 | N | 0.373 | 0.243 | 0.622442570095 | gnomAD-4.0.0 | 6.84279E-07 | None | None | None | None | N | None | 0 | 2.23714E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | rs761993856 |
0.003 | 0.958 | N | 0.417 | 0.162 | 0.237489013734 | gnomAD-2.1.1 | 1.32317E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.69127E-03 | None | 0 | None | 0 | 2.35E-05 | 1.40568E-04 |
| R/Q | rs761993856 |
0.003 | 0.958 | N | 0.417 | 0.162 | 0.237489013734 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 7.72798E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/Q | rs761993856 |
0.003 | 0.958 | N | 0.417 | 0.162 | 0.237489013734 | gnomAD-4.0.0 | 4.21451E-05 | None | None | None | None | N | None | 2.67058E-05 | 0 | None | 0 | 1.27045E-03 | None | 0 | 0 | 4.23856E-06 | 1.09791E-05 | 4.804E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.4202 | ambiguous | 0.39 | ambiguous | -0.022 | Destabilizing | 0.688 | D | 0.364 | neutral | None | None | None | None | N |
| R/C | 0.1888 | likely_benign | 0.187 | benign | -0.326 | Destabilizing | 0.998 | D | 0.385 | neutral | None | None | None | None | N |
| R/D | 0.6769 | likely_pathogenic | 0.6665 | pathogenic | -0.329 | Destabilizing | 0.915 | D | 0.375 | neutral | None | None | None | None | N |
| R/E | 0.4414 | ambiguous | 0.4286 | ambiguous | -0.289 | Destabilizing | 0.842 | D | 0.365 | neutral | None | None | None | None | N |
| R/F | 0.4497 | ambiguous | 0.4409 | ambiguous | -0.339 | Destabilizing | 0.016 | N | 0.294 | neutral | None | None | None | None | N |
| R/G | 0.2853 | likely_benign | 0.252 | benign | -0.162 | Destabilizing | 0.954 | D | 0.387 | neutral | D | 0.52228519 | None | None | N |
| R/H | 0.1058 | likely_benign | 0.1018 | benign | -0.62 | Destabilizing | 0.991 | D | 0.417 | neutral | None | None | None | None | N |
| R/I | 0.2745 | likely_benign | 0.2684 | benign | 0.301 | Stabilizing | 0.904 | D | 0.372 | neutral | None | None | None | None | N |
| R/K | 0.1361 | likely_benign | 0.1373 | benign | -0.253 | Destabilizing | 0.029 | N | 0.165 | neutral | None | None | None | None | N |
| R/L | 0.2506 | likely_benign | 0.2383 | benign | 0.301 | Stabilizing | 0.837 | D | 0.373 | neutral | N | 0.510972118 | None | None | N |
| R/M | 0.3612 | ambiguous | 0.3401 | ambiguous | -0.115 | Destabilizing | 0.974 | D | 0.398 | neutral | None | None | None | None | N |
| R/N | 0.5785 | likely_pathogenic | 0.5732 | pathogenic | -0.174 | Destabilizing | 0.915 | D | 0.401 | neutral | None | None | None | None | N |
| R/P | 0.4213 | ambiguous | 0.3769 | ambiguous | 0.211 | Stabilizing | 0.996 | D | 0.369 | neutral | N | 0.493021076 | None | None | N |
| R/Q | 0.1177 | likely_benign | 0.108 | benign | -0.214 | Destabilizing | 0.958 | D | 0.417 | neutral | N | 0.487940543 | None | None | N |
| R/S | 0.4888 | ambiguous | 0.4607 | ambiguous | -0.368 | Destabilizing | 0.842 | D | 0.395 | neutral | None | None | None | None | N |
| R/T | 0.3073 | likely_benign | 0.2884 | benign | -0.221 | Destabilizing | 0.915 | D | 0.399 | neutral | None | None | None | None | N |
| R/V | 0.3522 | ambiguous | 0.343 | ambiguous | 0.211 | Stabilizing | 0.842 | D | 0.399 | neutral | None | None | None | None | N |
| R/W | 0.1631 | likely_benign | 0.1451 | benign | -0.506 | Destabilizing | 0.998 | D | 0.385 | neutral | None | None | None | None | N |
| R/Y | 0.3295 | likely_benign | 0.3165 | benign | -0.105 | Destabilizing | 0.904 | D | 0.361 | 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.