Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35982 | 108169;108170;108171 | chr2:178527044;178527043;178527042 | chr2:179391771;179391770;179391769 |
| N2AB | 34341 | 103246;103247;103248 | chr2:178527044;178527043;178527042 | chr2:179391771;179391770;179391769 |
| N2A | 33414 | 100465;100466;100467 | chr2:178527044;178527043;178527042 | chr2:179391771;179391770;179391769 |
| N2B | 26917 | 80974;80975;80976 | chr2:178527044;178527043;178527042 | chr2:179391771;179391770;179391769 |
| Novex-1 | 27042 | 81349;81350;81351 | chr2:178527044;178527043;178527042 | chr2:179391771;179391770;179391769 |
| Novex-2 | 27109 | 81550;81551;81552 | chr2:178527044;178527043;178527042 | chr2:179391771;179391770;179391769 |
| 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/V | None | None | 0.992 | N | 0.557 | 0.424 | 0.576907859032 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | -2.166(OBSL1) -0.789(OBSCN) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 | 0.8451 | likely_pathogenic | 0.8354 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | -1.683(OBSL1) -0.458(OBSCN) | N |
| A/D | 0.8209 | likely_pathogenic | 0.7173 | pathogenic | -0.622 | Destabilizing | 0.999 | D | 0.842 | deleterious | N | 0.507612608 | None | -1.41(OBSL1) -0.38(OBSCN) | N |
| A/E | 0.7506 | likely_pathogenic | 0.6209 | pathogenic | -0.677 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | -1.509(OBSL1) -0.503(OBSCN) | N |
| A/F | 0.8824 | likely_pathogenic | 0.8256 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | -2.204(OBSL1) -0.211(OBSCN) | N |
| A/G | 0.4063 | ambiguous | 0.3569 | ambiguous | -0.966 | Destabilizing | 0.996 | D | 0.543 | neutral | N | 0.488787564 | None | -1.818(OBSL1) -0.635(OBSCN) | N |
| A/H | 0.9068 | likely_pathogenic | 0.8553 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | -2.082(OBSL1) 0.269(OBSCN) | N |
| A/I | 0.8499 | likely_pathogenic | 0.7988 | pathogenic | -0.291 | Destabilizing | 0.998 | D | 0.813 | deleterious | None | None | None | -2.281(OBSL1) -0.844(OBSCN) | N |
| A/K | 0.8536 | likely_pathogenic | 0.7464 | pathogenic | -1.033 | Destabilizing | 0.998 | D | 0.777 | deleterious | None | None | None | -2.484(OBSL1) -0.819(OBSCN) | N |
| A/L | 0.729 | likely_pathogenic | 0.6594 | pathogenic | -0.291 | Destabilizing | 0.994 | D | 0.625 | neutral | None | None | None | -2.281(OBSL1) -0.844(OBSCN) | N |
| A/M | 0.7522 | likely_pathogenic | 0.6844 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | -1.807(OBSL1) -0.594(OBSCN) | N |
| A/N | 0.8158 | likely_pathogenic | 0.7335 | pathogenic | -0.743 | Destabilizing | 0.999 | D | 0.847 | deleterious | None | None | None | -1.875(OBSL1) -0.686(OBSCN) | N |
| A/P | 0.9913 | likely_pathogenic | 0.9867 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.540720472 | None | -2.166(OBSL1) -0.789(OBSCN) | N |
| A/Q | 0.7398 | likely_pathogenic | 0.6321 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | -1.942(OBSL1) -0.666(OBSCN) | N |
| A/R | 0.769 | likely_pathogenic | 0.649 | pathogenic | -0.695 | Destabilizing | 0.999 | D | 0.822 | deleterious | None | None | None | -2.487(OBSL1) -0.911(OBSCN) | N |
| A/S | 0.2079 | likely_benign | 0.182 | benign | -1.14 | Destabilizing | 0.984 | D | 0.549 | neutral | N | 0.517532731 | None | -1.931(OBSL1) -0.417(OBSCN) | N |
| A/T | 0.2859 | likely_benign | 0.231 | benign | -1.079 | Destabilizing | 0.619 | D | 0.368 | neutral | N | 0.502429993 | None | -2.054(OBSL1) -0.529(OBSCN) | N |
| A/V | 0.5468 | ambiguous | 0.4705 | ambiguous | -0.399 | Destabilizing | 0.992 | D | 0.557 | neutral | N | 0.507259809 | None | -2.166(OBSL1) -0.789(OBSCN) | N |
| A/W | 0.989 | likely_pathogenic | 0.9812 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | -2.244(OBSL1) -0.187(OBSCN) | N |
| A/Y | 0.9357 | likely_pathogenic | 0.9024 | pathogenic | -0.802 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | -2.226(OBSL1) -0.206(OBSCN) | 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.