Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14313 | 43162;43163;43164 | chr2:178633422;178633421;178633420 | chr2:179498149;179498148;179498147 |
| N2AB | 12672 | 38239;38240;38241 | chr2:178633422;178633421;178633420 | chr2:179498149;179498148;179498147 |
| N2A | 11745 | 35458;35459;35460 | chr2:178633422;178633421;178633420 | chr2:179498149;179498148;179498147 |
| N2B | 5248 | 15967;15968;15969 | chr2:178633422;178633421;178633420 | chr2:179498149;179498148;179498147 |
| Novex-1 | 5373 | 16342;16343;16344 | chr2:178633422;178633421;178633420 | chr2:179498149;179498148;179498147 |
| Novex-2 | 5440 | 16543;16544;16545 | chr2:178633422;178633421;178633420 | chr2:179498149;179498148;179498147 |
| 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/A | rs752143463  |
-0.7 | None | N | 0.085 | 0.107 | 0.0666544352282 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| T/A | rs752143463 |
-0.7 | None | N | 0.085 | 0.107 | 0.0666544352282 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/A | rs752143463 |
-0.7 | None | N | 0.085 | 0.107 | 0.0666544352282 | gnomAD-4.0.0 | 3.84533E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.18284E-06 | 0 | 0 |
| T/S | None | None | 0.001 | N | 0.129 | 0.079 | 0.0138822411134 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.75482E-04 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0822 | likely_benign | 0.0828 | benign | -0.771 | Destabilizing | None | N | 0.085 | neutral | N | 0.456596678 | None | None | N |
| T/C | 0.3737 | ambiguous | 0.3773 | ambiguous | -0.519 | Destabilizing | 0.54 | D | 0.338 | neutral | None | None | None | None | N |
| T/D | 0.2573 | likely_benign | 0.2389 | benign | -0.425 | Destabilizing | 0.033 | N | 0.336 | neutral | None | None | None | None | N |
| T/E | 0.2688 | likely_benign | 0.2434 | benign | -0.431 | Destabilizing | 0.033 | N | 0.317 | neutral | None | None | None | None | N |
| T/F | 0.1699 | likely_benign | 0.1571 | benign | -0.84 | Destabilizing | 0.142 | N | 0.515 | neutral | None | None | None | None | N |
| T/G | 0.2535 | likely_benign | 0.2498 | benign | -1.027 | Destabilizing | None | N | 0.194 | neutral | None | None | None | None | N |
| T/H | 0.1558 | likely_benign | 0.164 | benign | -1.343 | Destabilizing | None | N | 0.229 | neutral | None | None | None | None | N |
| T/I | 0.1119 | likely_benign | 0.099 | benign | -0.18 | Destabilizing | None | N | 0.2 | neutral | N | 0.440730095 | None | None | N |
| T/K | 0.1849 | likely_benign | 0.1675 | benign | -0.806 | Destabilizing | None | N | 0.151 | neutral | None | None | None | None | N |
| T/L | 0.0948 | likely_benign | 0.0893 | benign | -0.18 | Destabilizing | 0.012 | N | 0.297 | neutral | None | None | None | None | N |
| T/M | 0.0897 | likely_benign | 0.089 | benign | 0.129 | Stabilizing | 0.367 | N | 0.347 | neutral | None | None | None | None | N |
| T/N | 0.0684 | likely_benign | 0.0695 | benign | -0.728 | Destabilizing | None | N | 0.09 | neutral | N | 0.398495879 | None | None | N |
| T/P | 0.4256 | ambiguous | 0.4577 | ambiguous | -0.345 | Destabilizing | 0.202 | N | 0.407 | neutral | D | 0.538499603 | None | None | N |
| T/Q | 0.2041 | likely_benign | 0.1984 | benign | -0.927 | Destabilizing | 0.142 | N | 0.406 | neutral | None | None | None | None | N |
| T/R | 0.1562 | likely_benign | 0.1482 | benign | -0.549 | Destabilizing | 0.033 | N | 0.417 | neutral | None | None | None | None | N |
| T/S | 0.0963 | likely_benign | 0.0949 | benign | -0.976 | Destabilizing | 0.001 | N | 0.129 | neutral | N | 0.449591 | None | None | N |
| T/V | 0.1191 | likely_benign | 0.1091 | benign | -0.345 | Destabilizing | 0.012 | N | 0.252 | neutral | None | None | None | None | N |
| T/W | 0.5202 | ambiguous | 0.52 | ambiguous | -0.773 | Destabilizing | 0.931 | D | 0.421 | neutral | None | None | None | None | N |
| T/Y | 0.2081 | likely_benign | 0.2066 | benign | -0.544 | Destabilizing | 0.142 | N | 0.491 | 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.