Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31978 | 96157;96158;96159 | chr2:178544297;178544296;178544295 | chr2:179409024;179409023;179409022 |
| N2AB | 30337 | 91234;91235;91236 | chr2:178544297;178544296;178544295 | chr2:179409024;179409023;179409022 |
| N2A | 29410 | 88453;88454;88455 | chr2:178544297;178544296;178544295 | chr2:179409024;179409023;179409022 |
| N2B | 22913 | 68962;68963;68964 | chr2:178544297;178544296;178544295 | chr2:179409024;179409023;179409022 |
| Novex-1 | 23038 | 69337;69338;69339 | chr2:178544297;178544296;178544295 | chr2:179409024;179409023;179409022 |
| Novex-2 | 23105 | 69538;69539;69540 | chr2:178544297;178544296;178544295 | chr2:179409024;179409023;179409022 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1210276055  |
-1.657 | 0.012 | N | 0.249 | 0.288 | 0.184867976434 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/D | rs1210276055 |
-1.657 | 0.012 | N | 0.249 | 0.288 | 0.184867976434 | gnomAD-4.0.0 | 2.7369E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99497E-07 | 3.47818E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1757 | likely_benign | 0.1706 | benign | -0.57 | Destabilizing | 0.454 | N | 0.424 | neutral | N | 0.498535965 | None | None | N |
| G/C | 0.2148 | likely_benign | 0.2057 | benign | -0.814 | Destabilizing | 0.997 | D | 0.622 | neutral | N | 0.497828648 | None | None | N |
| G/D | 0.1785 | likely_benign | 0.17 | benign | -1.236 | Destabilizing | 0.012 | N | 0.249 | neutral | N | 0.459054857 | None | None | N |
| G/E | 0.2033 | likely_benign | 0.1985 | benign | -1.368 | Destabilizing | 0.525 | D | 0.591 | neutral | None | None | None | None | N |
| G/F | 0.5393 | ambiguous | 0.5378 | ambiguous | -1.114 | Destabilizing | 0.974 | D | 0.647 | neutral | None | None | None | None | N |
| G/H | 0.2999 | likely_benign | 0.2998 | benign | -0.973 | Destabilizing | 0.974 | D | 0.623 | neutral | None | None | None | None | N |
| G/I | 0.4318 | ambiguous | 0.4001 | ambiguous | -0.523 | Destabilizing | 0.949 | D | 0.645 | neutral | None | None | None | None | N |
| G/K | 0.318 | likely_benign | 0.3159 | benign | -1.329 | Destabilizing | 0.842 | D | 0.603 | neutral | None | None | None | None | N |
| G/L | 0.4162 | ambiguous | 0.4177 | ambiguous | -0.523 | Destabilizing | 0.728 | D | 0.627 | neutral | None | None | None | None | N |
| G/M | 0.4717 | ambiguous | 0.4753 | ambiguous | -0.464 | Destabilizing | 0.998 | D | 0.621 | neutral | None | None | None | None | N |
| G/N | 0.1876 | likely_benign | 0.1901 | benign | -0.87 | Destabilizing | 0.002 | N | 0.175 | neutral | None | None | None | None | N |
| G/P | 0.7689 | likely_pathogenic | 0.7334 | pathogenic | -0.503 | Destabilizing | 0.974 | D | 0.617 | neutral | None | None | None | None | N |
| G/Q | 0.2666 | likely_benign | 0.2671 | benign | -1.163 | Destabilizing | 0.974 | D | 0.63 | neutral | None | None | None | None | N |
| G/R | 0.2562 | likely_benign | 0.2516 | benign | -0.796 | Destabilizing | 0.801 | D | 0.609 | neutral | N | 0.506867447 | None | None | N |
| G/S | 0.1224 | likely_benign | 0.1227 | benign | -0.961 | Destabilizing | 0.051 | N | 0.183 | neutral | N | 0.480334206 | None | None | N |
| G/T | 0.2229 | likely_benign | 0.2222 | benign | -1.039 | Destabilizing | 0.067 | N | 0.389 | neutral | None | None | None | None | N |
| G/V | 0.3246 | likely_benign | 0.3048 | benign | -0.503 | Destabilizing | 0.669 | D | 0.623 | neutral | N | 0.490738304 | None | None | N |
| G/W | 0.4002 | ambiguous | 0.3684 | ambiguous | -1.347 | Destabilizing | 0.998 | D | 0.654 | neutral | None | None | None | None | N |
| G/Y | 0.3713 | ambiguous | 0.3695 | ambiguous | -1.012 | Destabilizing | 0.991 | D | 0.647 | 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.