Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23879 | 71860;71861;71862 | chr2:178574497;178574496;178574495 | chr2:179439224;179439223;179439222 |
| N2AB | 22238 | 66937;66938;66939 | chr2:178574497;178574496;178574495 | chr2:179439224;179439223;179439222 |
| N2A | 21311 | 64156;64157;64158 | chr2:178574497;178574496;178574495 | chr2:179439224;179439223;179439222 |
| N2B | 14814 | 44665;44666;44667 | chr2:178574497;178574496;178574495 | chr2:179439224;179439223;179439222 |
| Novex-1 | 14939 | 45040;45041;45042 | chr2:178574497;178574496;178574495 | chr2:179439224;179439223;179439222 |
| Novex-2 | 15006 | 45241;45242;45243 | chr2:178574497;178574496;178574495 | chr2:179439224;179439223;179439222 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs778238304  |
0.101 | 0.966 | N | 0.321 | 0.27 | 0.379020345274 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65782E-04 |
| A/P | rs778238304 |
0.101 | 0.966 | N | 0.321 | 0.27 | 0.379020345274 | gnomAD-4.0.0 | 2.05279E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79913E-06 | 0 | 1.65678E-05 |
| A/T | rs778238304 |
-0.225 | 0.051 | N | 0.161 | 0.152 | 0.208816687407 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| A/T | rs778238304 |
-0.225 | 0.051 | N | 0.161 | 0.152 | 0.208816687407 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs778238304 |
-0.225 | 0.051 | N | 0.161 | 0.152 | 0.208816687407 | gnomAD-4.0.0 | 3.16072E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.81467E-05 | 0 | 9.60799E-05 |
| A/V | rs566803857 |
None | 0.669 | N | 0.225 | 0.171 | 0.284150004643 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.2654 | likely_benign | 0.2754 | benign | -0.688 | Destabilizing | 0.998 | D | 0.315 | neutral | None | None | None | None | I |
| A/D | 0.2335 | likely_benign | 0.2479 | benign | -0.562 | Destabilizing | 0.669 | D | 0.312 | neutral | N | 0.436206922 | None | None | I |
| A/E | 0.2249 | likely_benign | 0.2454 | benign | -0.693 | Destabilizing | 0.842 | D | 0.291 | neutral | None | None | None | None | I |
| A/F | 0.1995 | likely_benign | 0.2013 | benign | -0.792 | Destabilizing | 0.949 | D | 0.345 | neutral | None | None | None | None | I |
| A/G | 0.0982 | likely_benign | 0.0961 | benign | -0.336 | Destabilizing | 0.005 | N | 0.101 | neutral | N | 0.447250635 | None | None | I |
| A/H | 0.3017 | likely_benign | 0.3187 | benign | -0.34 | Destabilizing | 0.993 | D | 0.337 | neutral | None | None | None | None | I |
| A/I | 0.1248 | likely_benign | 0.1283 | benign | -0.255 | Destabilizing | 0.904 | D | 0.33 | neutral | None | None | None | None | I |
| A/K | 0.3646 | ambiguous | 0.3938 | ambiguous | -0.708 | Destabilizing | 0.842 | D | 0.293 | neutral | None | None | None | None | I |
| A/L | 0.1105 | likely_benign | 0.1177 | benign | -0.255 | Destabilizing | 0.275 | N | 0.25 | neutral | None | None | None | None | I |
| A/M | 0.113 | likely_benign | 0.1167 | benign | -0.438 | Destabilizing | 0.525 | D | 0.259 | neutral | None | None | None | None | I |
| A/N | 0.1276 | likely_benign | 0.1324 | benign | -0.35 | Destabilizing | 0.016 | N | 0.205 | neutral | None | None | None | None | I |
| A/P | 0.3963 | ambiguous | 0.4023 | ambiguous | -0.224 | Destabilizing | 0.966 | D | 0.321 | neutral | N | 0.483518079 | None | None | I |
| A/Q | 0.2378 | likely_benign | 0.253 | benign | -0.595 | Destabilizing | 0.974 | D | 0.319 | neutral | None | None | None | None | I |
| A/R | 0.3721 | ambiguous | 0.3871 | ambiguous | -0.256 | Destabilizing | 0.949 | D | 0.327 | neutral | None | None | None | None | I |
| A/S | 0.0733 | likely_benign | 0.0735 | benign | -0.537 | Destabilizing | 0.454 | N | 0.283 | neutral | N | 0.421853545 | None | None | I |
| A/T | 0.0622 | likely_benign | 0.063 | benign | -0.587 | Destabilizing | 0.051 | N | 0.161 | neutral | N | 0.378966772 | None | None | I |
| A/V | 0.0774 | likely_benign | 0.0785 | benign | -0.224 | Destabilizing | 0.669 | D | 0.225 | neutral | N | 0.399955333 | None | None | I |
| A/W | 0.5493 | ambiguous | 0.5502 | ambiguous | -0.966 | Destabilizing | 0.998 | D | 0.412 | neutral | None | None | None | None | I |
| A/Y | 0.2602 | likely_benign | 0.2617 | benign | -0.615 | Destabilizing | 0.974 | D | 0.336 | 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.