Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30194 | 90805;90806;90807 | chr2:178552320;178552319;178552318 | chr2:179417047;179417046;179417045 |
| N2AB | 28553 | 85882;85883;85884 | chr2:178552320;178552319;178552318 | chr2:179417047;179417046;179417045 |
| N2A | 27626 | 83101;83102;83103 | chr2:178552320;178552319;178552318 | chr2:179417047;179417046;179417045 |
| N2B | 21129 | 63610;63611;63612 | chr2:178552320;178552319;178552318 | chr2:179417047;179417046;179417045 |
| Novex-1 | 21254 | 63985;63986;63987 | chr2:178552320;178552319;178552318 | chr2:179417047;179417046;179417045 |
| Novex-2 | 21321 | 64186;64187;64188 | chr2:178552320;178552319;178552318 | chr2:179417047;179417046;179417045 |
| 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/S | rs879039246  |
-1.707 | 0.001 | N | 0.368 | 0.166 | 0.286465849087 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9E-06 | 0 |
| A/S | rs879039246 |
-1.707 | 0.001 | N | 0.368 | 0.166 | 0.286465849087 | gnomAD-4.0.0 | 1.6008E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86944E-06 | 0 | 0 |
| A/V | rs1198317987 |
-0.491 | None | N | 0.212 | 0.164 | 0.0716867268079 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.99E-06 | 0 |
| A/V | rs1198317987 |
-0.491 | None | N | 0.212 | 0.164 | 0.0716867268079 | gnomAD-4.0.0 | 1.60004E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86847E-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 | 0.4942 | ambiguous | 0.4114 | ambiguous | -1.324 | Destabilizing | 0.909 | D | 0.599 | neutral | None | None | None | None | N |
| A/D | 0.9429 | likely_pathogenic | 0.9103 | pathogenic | -2.728 | Highly Destabilizing | 0.331 | N | 0.633 | neutral | N | 0.504248927 | None | None | N |
| A/E | 0.9111 | likely_pathogenic | 0.8599 | pathogenic | -2.632 | Highly Destabilizing | 0.157 | N | 0.621 | neutral | None | None | None | None | N |
| A/F | 0.8326 | likely_pathogenic | 0.764 | pathogenic | -0.985 | Destabilizing | 0.567 | D | 0.639 | neutral | None | None | None | None | N |
| A/G | 0.2912 | likely_benign | 0.2645 | benign | -1.577 | Destabilizing | 0.124 | N | 0.509 | neutral | N | 0.497412072 | None | None | N |
| A/H | 0.9595 | likely_pathogenic | 0.9329 | pathogenic | -1.952 | Destabilizing | 0.909 | D | 0.615 | neutral | None | None | None | None | N |
| A/I | 0.223 | likely_benign | 0.2088 | benign | -0.242 | Destabilizing | 0.06 | N | 0.525 | neutral | None | None | None | None | N |
| A/K | 0.9733 | likely_pathogenic | 0.9508 | pathogenic | -1.498 | Destabilizing | 0.157 | N | 0.621 | neutral | None | None | None | None | N |
| A/L | 0.3484 | ambiguous | 0.2899 | benign | -0.242 | Destabilizing | 0.072 | N | 0.526 | neutral | None | None | None | None | N |
| A/M | 0.4236 | ambiguous | 0.3712 | ambiguous | -0.254 | Destabilizing | 0.567 | D | 0.629 | neutral | None | None | None | None | N |
| A/N | 0.7846 | likely_pathogenic | 0.7079 | pathogenic | -1.621 | Destabilizing | 0.396 | N | 0.637 | neutral | None | None | None | None | N |
| A/P | 0.6466 | likely_pathogenic | 0.5707 | pathogenic | -0.522 | Destabilizing | 0.497 | N | 0.647 | neutral | D | 0.524752279 | None | None | N |
| A/Q | 0.8984 | likely_pathogenic | 0.8512 | pathogenic | -1.601 | Destabilizing | 0.567 | D | 0.656 | neutral | None | None | None | None | N |
| A/R | 0.9521 | likely_pathogenic | 0.9153 | pathogenic | -1.337 | Destabilizing | 0.567 | D | 0.658 | neutral | None | None | None | None | N |
| A/S | 0.154 | likely_benign | 0.1394 | benign | -1.913 | Destabilizing | 0.001 | N | 0.368 | neutral | N | 0.496584243 | None | None | N |
| A/T | 0.1023 | likely_benign | 0.0925 | benign | -1.726 | Destabilizing | 0.124 | N | 0.517 | neutral | N | 0.498739114 | None | None | N |
| A/V | 0.0918 | likely_benign | 0.0863 | benign | -0.522 | Destabilizing | None | N | 0.212 | neutral | N | 0.400934847 | None | None | N |
| A/W | 0.9852 | likely_pathogenic | 0.9729 | pathogenic | -1.678 | Destabilizing | 0.968 | D | 0.665 | neutral | None | None | None | None | N |
| A/Y | 0.946 | likely_pathogenic | 0.9116 | pathogenic | -1.222 | Destabilizing | 0.726 | D | 0.633 | 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.