Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25153 | 75682;75683;75684 | chr2:178570675;178570674;178570673 | chr2:179435402;179435401;179435400 |
| N2AB | 23512 | 70759;70760;70761 | chr2:178570675;178570674;178570673 | chr2:179435402;179435401;179435400 |
| N2A | 22585 | 67978;67979;67980 | chr2:178570675;178570674;178570673 | chr2:179435402;179435401;179435400 |
| N2B | 16088 | 48487;48488;48489 | chr2:178570675;178570674;178570673 | chr2:179435402;179435401;179435400 |
| Novex-1 | 16213 | 48862;48863;48864 | chr2:178570675;178570674;178570673 | chr2:179435402;179435401;179435400 |
| Novex-2 | 16280 | 49063;49064;49065 | chr2:178570675;178570674;178570673 | chr2:179435402;179435401;179435400 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | rs368058280  |
-0.012 | 0.379 | N | 0.361 | 0.242 | None | gnomAD-2.1.1 | 9.28E-05 | None | None | None | None | N | None | 0 | 5.66E-05 | None | 0 | 0 | None | 5.23013E-04 | None | 0 | 6.25E-05 | 0 |
| S/L | rs368058280 |
-0.012 | 0.379 | N | 0.361 | 0.242 | None | gnomAD-3.1.2 | 6.58E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.83E-05 | 4.14594E-04 | 0 |
| S/L | rs368058280 |
-0.012 | 0.379 | N | 0.361 | 0.242 | None | gnomAD-4.0.0 | 9.73036E-05 | None | None | None | None | N | None | 3.99947E-05 | 3.33411E-05 | None | 0 | 0 | None | 0 | 0 | 9.15569E-05 | 4.61174E-04 | 3.20164E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0634 | likely_benign | 0.0639 | benign | -0.269 | Destabilizing | 0.002 | N | 0.157 | neutral | N | 0.449960945 | None | None | N |
| S/C | 0.0802 | likely_benign | 0.0861 | benign | -0.344 | Destabilizing | 0.977 | D | 0.369 | neutral | None | None | None | None | N |
| S/D | 0.1984 | likely_benign | 0.1999 | benign | 0.297 | Stabilizing | 0.447 | N | 0.217 | neutral | None | None | None | None | N |
| S/E | 0.221 | likely_benign | 0.2275 | benign | 0.217 | Stabilizing | 0.021 | N | 0.213 | neutral | None | None | None | None | N |
| S/F | 0.1319 | likely_benign | 0.152 | benign | -0.891 | Destabilizing | 0.92 | D | 0.457 | neutral | None | None | None | None | N |
| S/G | 0.0685 | likely_benign | 0.0668 | benign | -0.382 | Destabilizing | 0.25 | N | 0.256 | neutral | None | None | None | None | N |
| S/H | 0.1743 | likely_benign | 0.1848 | benign | -0.794 | Destabilizing | 0.972 | D | 0.373 | neutral | None | None | None | None | N |
| S/I | 0.0913 | likely_benign | 0.0971 | benign | -0.107 | Destabilizing | 0.85 | D | 0.441 | neutral | None | None | None | None | N |
| S/K | 0.2594 | likely_benign | 0.2677 | benign | -0.38 | Destabilizing | 0.617 | D | 0.217 | neutral | None | None | None | None | N |
| S/L | 0.0694 | likely_benign | 0.0774 | benign | -0.107 | Destabilizing | 0.379 | N | 0.361 | neutral | N | 0.480803927 | None | None | N |
| S/M | 0.1234 | likely_benign | 0.1367 | benign | -0.109 | Destabilizing | 0.972 | D | 0.375 | neutral | None | None | None | None | N |
| S/N | 0.0792 | likely_benign | 0.0795 | benign | -0.187 | Destabilizing | 0.617 | D | 0.261 | neutral | None | None | None | None | N |
| S/P | 0.1155 | likely_benign | 0.1255 | benign | -0.132 | Destabilizing | 0.712 | D | 0.373 | neutral | N | 0.41669652 | None | None | N |
| S/Q | 0.2208 | likely_benign | 0.2271 | benign | -0.353 | Destabilizing | 0.85 | D | 0.3 | neutral | None | None | None | None | N |
| S/R | 0.2371 | likely_benign | 0.2356 | benign | -0.206 | Destabilizing | 0.85 | D | 0.362 | neutral | None | None | None | None | N |
| S/T | 0.0613 | likely_benign | 0.0632 | benign | -0.26 | Destabilizing | 0.002 | N | 0.123 | neutral | N | 0.41565637 | None | None | N |
| S/V | 0.097 | likely_benign | 0.104 | benign | -0.132 | Destabilizing | 0.447 | N | 0.359 | neutral | None | None | None | None | N |
| S/W | 0.2283 | likely_benign | 0.2547 | benign | -0.956 | Destabilizing | 0.992 | D | 0.502 | neutral | None | None | None | None | N |
| S/Y | 0.1202 | likely_benign | 0.1389 | benign | -0.636 | Destabilizing | 0.972 | D | 0.455 | 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.