Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25454 | 76585;76586;76587 | chr2:178569772;178569771;178569770 | chr2:179434499;179434498;179434497 |
| N2AB | 23813 | 71662;71663;71664 | chr2:178569772;178569771;178569770 | chr2:179434499;179434498;179434497 |
| N2A | 22886 | 68881;68882;68883 | chr2:178569772;178569771;178569770 | chr2:179434499;179434498;179434497 |
| N2B | 16389 | 49390;49391;49392 | chr2:178569772;178569771;178569770 | chr2:179434499;179434498;179434497 |
| Novex-1 | 16514 | 49765;49766;49767 | chr2:178569772;178569771;178569770 | chr2:179434499;179434498;179434497 |
| Novex-2 | 16581 | 49966;49967;49968 | chr2:178569772;178569771;178569770 | chr2:179434499;179434498;179434497 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | None | None | None | N | 0.154 | 0.113 | 0.476364732183 | gnomAD-4.0.0 | 2.05326E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69872E-06 | 0 | 0 |
| M/T | rs1249375383  |
0.137 | None | N | 0.225 | 0.193 | 0.409800938858 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| M/T | rs1249375383 |
0.137 | None | N | 0.225 | 0.193 | 0.409800938858 | 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 |
| M/T | rs1249375383 |
0.137 | None | N | 0.225 | 0.193 | 0.409800938858 | gnomAD-4.0.0 | 1.85976E-06 | None | None | None | None | N | None | 0 | 1.66828E-05 | None | 0 | 0 | None | 0 | 0 | 8.47745E-07 | 1.09815E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.1566 | likely_benign | 0.1898 | benign | -1.399 | Destabilizing | 0.103 | N | 0.317 | neutral | None | None | None | None | N |
| M/C | 0.5341 | ambiguous | 0.5843 | pathogenic | -0.884 | Destabilizing | 0.965 | D | 0.51 | neutral | None | None | None | None | N |
| M/D | 0.654 | likely_pathogenic | 0.6984 | pathogenic | -0.507 | Destabilizing | 0.561 | D | 0.551 | neutral | None | None | None | None | N |
| M/E | 0.2985 | likely_benign | 0.3256 | benign | -0.535 | Destabilizing | 0.561 | D | 0.523 | neutral | None | None | None | None | N |
| M/F | 0.2527 | likely_benign | 0.2722 | benign | -0.754 | Destabilizing | 0.561 | D | 0.361 | neutral | None | None | None | None | N |
| M/G | 0.3809 | ambiguous | 0.4406 | ambiguous | -1.64 | Destabilizing | 0.561 | D | 0.499 | neutral | None | None | None | None | N |
| M/H | 0.3916 | ambiguous | 0.4361 | ambiguous | -0.748 | Destabilizing | 0.965 | D | 0.501 | neutral | None | None | None | None | N |
| M/I | 0.1201 | likely_benign | 0.137 | benign | -0.817 | Destabilizing | None | N | 0.154 | neutral | N | 0.378740273 | None | None | N |
| M/K | 0.1252 | likely_benign | 0.1384 | benign | -0.318 | Destabilizing | 0.491 | N | 0.478 | neutral | N | 0.391168066 | None | None | N |
| M/L | 0.0912 | likely_benign | 0.0962 | benign | -0.817 | Destabilizing | 0.036 | N | 0.155 | neutral | N | 0.426955507 | None | None | N |
| M/N | 0.3008 | likely_benign | 0.3491 | ambiguous | -0.11 | Destabilizing | 0.561 | D | 0.553 | neutral | None | None | None | None | N |
| M/P | 0.2227 | likely_benign | 0.3026 | benign | -0.984 | Destabilizing | 0.722 | D | 0.563 | neutral | None | None | None | None | N |
| M/Q | 0.1681 | likely_benign | 0.1893 | benign | -0.297 | Destabilizing | 0.722 | D | 0.439 | neutral | None | None | None | None | N |
| M/R | 0.1329 | likely_benign | 0.1447 | benign | 0.266 | Stabilizing | 0.491 | N | 0.529 | neutral | N | 0.397824679 | None | None | N |
| M/S | 0.1971 | likely_benign | 0.2344 | benign | -0.612 | Destabilizing | 0.209 | N | 0.425 | neutral | None | None | None | None | N |
| M/T | 0.0808 | likely_benign | 0.0994 | benign | -0.541 | Destabilizing | None | N | 0.225 | neutral | N | 0.36103716 | None | None | N |
| M/V | 0.0506 | likely_benign | 0.0535 | benign | -0.984 | Destabilizing | 0.036 | N | 0.235 | neutral | N | 0.401230344 | None | None | N |
| M/W | 0.5871 | likely_pathogenic | 0.607 | pathogenic | -0.657 | Destabilizing | 0.991 | D | 0.485 | neutral | None | None | None | None | N |
| M/Y | 0.4428 | ambiguous | 0.4718 | ambiguous | -0.642 | Destabilizing | 0.965 | D | 0.563 | 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.