Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15120 | 45583;45584;45585 | chr2:178621360;178621359;178621358 | chr2:179486087;179486086;179486085 |
| N2AB | 13479 | 40660;40661;40662 | chr2:178621360;178621359;178621358 | chr2:179486087;179486086;179486085 |
| N2A | 12552 | 37879;37880;37881 | chr2:178621360;178621359;178621358 | chr2:179486087;179486086;179486085 |
| N2B | 6055 | 18388;18389;18390 | chr2:178621360;178621359;178621358 | chr2:179486087;179486086;179486085 |
| Novex-1 | 6180 | 18763;18764;18765 | chr2:178621360;178621359;178621358 | chr2:179486087;179486086;179486085 |
| Novex-2 | 6247 | 18964;18965;18966 | chr2:178621360;178621359;178621358 | chr2:179486087;179486086;179486085 |
| 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/T | rs773442807  |
-0.925 | 0.999 | D | 0.689 | 0.378 | 0.394384168047 | gnomAD-2.1.1 | 8.15E-06 | None | None | None | None | N | None | 0 | 5.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs773442807 |
-0.925 | 0.999 | D | 0.689 | 0.378 | 0.394384168047 | gnomAD-4.0.0 | 3.19856E-06 | None | None | None | None | N | None | 0 | 4.63628E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.9008 | likely_pathogenic | 0.8558 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| A/D | 0.9636 | likely_pathogenic | 0.9363 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | D | 0.623180359 | None | None | N |
| A/E | 0.9214 | likely_pathogenic | 0.8726 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| A/F | 0.9384 | likely_pathogenic | 0.9214 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| A/G | 0.5032 | ambiguous | 0.4606 | ambiguous | -0.629 | Destabilizing | 0.999 | D | 0.593 | neutral | D | 0.623305783 | None | None | N |
| A/H | 0.9804 | likely_pathogenic | 0.9639 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| A/I | 0.8438 | likely_pathogenic | 0.7878 | pathogenic | -0.095 | Destabilizing | 0.91 | D | 0.413 | neutral | None | None | None | None | N |
| A/K | 0.9831 | likely_pathogenic | 0.9728 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| A/L | 0.7177 | likely_pathogenic | 0.6673 | pathogenic | -0.095 | Destabilizing | 0.994 | D | 0.519 | neutral | None | None | None | None | N |
| A/M | 0.8231 | likely_pathogenic | 0.7624 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| A/N | 0.9352 | likely_pathogenic | 0.8968 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| A/P | 0.5726 | likely_pathogenic | 0.4992 | ambiguous | -0.169 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.522775909 | None | None | N |
| A/Q | 0.9399 | likely_pathogenic | 0.9084 | pathogenic | -0.661 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| A/R | 0.9582 | likely_pathogenic | 0.9418 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| A/S | 0.2937 | likely_benign | 0.2384 | benign | -0.86 | Destabilizing | 0.999 | D | 0.575 | neutral | D | 0.618843139 | None | None | N |
| A/T | 0.4352 | ambiguous | 0.3508 | ambiguous | -0.814 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | D | 0.618172872 | None | None | N |
| A/V | 0.5111 | ambiguous | 0.4356 | ambiguous | -0.169 | Destabilizing | 0.992 | D | 0.551 | neutral | D | 0.567381338 | None | None | N |
| A/W | 0.9901 | likely_pathogenic | 0.9861 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| A/Y | 0.9704 | likely_pathogenic | 0.9551 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.765 | deleterious | 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.