Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2583 | 7972;7973;7974 | chr2:178773217;178773216;178773215 | chr2:179637944;179637943;179637942 |
| N2AB | 2583 | 7972;7973;7974 | chr2:178773217;178773216;178773215 | chr2:179637944;179637943;179637942 |
| N2A | 2583 | 7972;7973;7974 | chr2:178773217;178773216;178773215 | chr2:179637944;179637943;179637942 |
| N2B | 2537 | 7834;7835;7836 | chr2:178773217;178773216;178773215 | chr2:179637944;179637943;179637942 |
| Novex-1 | 2537 | 7834;7835;7836 | chr2:178773217;178773216;178773215 | chr2:179637944;179637943;179637942 |
| Novex-2 | 2537 | 7834;7835;7836 | chr2:178773217;178773216;178773215 | chr2:179637944;179637943;179637942 |
| Novex-3 | 2583 | 7972;7973;7974 | chr2:178773217;178773216;178773215 | chr2:179637944;179637943;179637942 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/R | rs2091790336  |
None | None | N | 0.097 | 0.099 | 0.112648838833 | gnomAD-4.0.0 | 1.36838E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79871E-06 | 0 | 0 |
| H/Y | rs367582681 |
1.022 | 0.391 | N | 0.325 | 0.161 | None | gnomAD-2.1.1 | 7.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.47E-05 | None | 0 | None | 0 | 8.84E-06 | 0 |
| H/Y | rs367582681 |
1.022 | 0.391 | N | 0.325 | 0.161 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| H/Y | rs367582681 |
1.022 | 0.391 | N | 0.325 | 0.161 | None | gnomAD-4.0.0 | 3.09888E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.46389E-05 | None | 0 | 0 | 1.69505E-06 | 0 | 1.60082E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.1838 | likely_benign | 0.1617 | benign | 0.36 | Stabilizing | 0.036 | N | 0.237 | neutral | None | None | None | None | N |
| H/C | 0.136 | likely_benign | 0.1185 | benign | 0.678 | Stabilizing | 0.972 | D | 0.256 | neutral | None | None | None | None | N |
| H/D | 0.1504 | likely_benign | 0.1212 | benign | -0.098 | Destabilizing | 0.116 | N | 0.288 | neutral | N | 0.303191286 | None | None | N |
| H/E | 0.1932 | likely_benign | 0.1735 | benign | -0.066 | Destabilizing | 0.036 | N | 0.183 | neutral | None | None | None | None | N |
| H/F | 0.2659 | likely_benign | 0.2595 | benign | 1.129 | Stabilizing | 0.901 | D | 0.339 | neutral | None | None | None | None | N |
| H/G | 0.2427 | likely_benign | 0.2116 | benign | 0.08 | Stabilizing | 0.148 | N | 0.249 | neutral | None | None | None | None | N |
| H/I | 0.2336 | likely_benign | 0.2053 | benign | 1.076 | Stabilizing | 0.46 | N | 0.411 | neutral | None | None | None | None | N |
| H/K | 0.126 | likely_benign | 0.1094 | benign | 0.303 | Stabilizing | None | N | 0.097 | neutral | None | None | None | None | N |
| H/L | 0.1144 | likely_benign | 0.0998 | benign | 1.076 | Stabilizing | 0.116 | N | 0.262 | neutral | N | 0.465285498 | None | None | N |
| H/M | 0.3693 | ambiguous | 0.3428 | ambiguous | 0.721 | Stabilizing | 0.749 | D | 0.287 | neutral | None | None | None | None | N |
| H/N | 0.0879 | likely_benign | 0.0785 | benign | 0.191 | Stabilizing | 0.116 | N | 0.229 | neutral | N | 0.412566706 | None | None | N |
| H/P | 0.487 | ambiguous | 0.3706 | ambiguous | 0.862 | Stabilizing | 0.391 | N | 0.354 | neutral | N | 0.465506486 | None | None | N |
| H/Q | 0.1046 | likely_benign | 0.0976 | benign | 0.308 | Stabilizing | 0.002 | N | 0.119 | neutral | N | 0.408910091 | None | None | N |
| H/R | 0.0603 | likely_benign | 0.0561 | benign | -0.296 | Destabilizing | None | N | 0.097 | neutral | N | 0.3962194 | None | None | N |
| H/S | 0.1612 | likely_benign | 0.1457 | benign | 0.316 | Stabilizing | 0.036 | N | 0.29 | neutral | None | None | None | None | N |
| H/T | 0.1841 | likely_benign | 0.1633 | benign | 0.451 | Stabilizing | 0.148 | N | 0.244 | neutral | None | None | None | None | N |
| H/V | 0.1853 | likely_benign | 0.1645 | benign | 0.862 | Stabilizing | 0.148 | N | 0.31 | neutral | None | None | None | None | N |
| H/W | 0.311 | likely_benign | 0.2853 | benign | 1.128 | Stabilizing | 0.972 | D | 0.259 | neutral | None | None | None | None | N |
| H/Y | 0.1019 | likely_benign | 0.0974 | benign | 1.354 | Stabilizing | 0.391 | N | 0.325 | neutral | N | 0.466000906 | 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.