Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22695 | 68308;68309;68310 | chr2:178578947;178578946;178578945 | chr2:179443674;179443673;179443672 |
| N2AB | 21054 | 63385;63386;63387 | chr2:178578947;178578946;178578945 | chr2:179443674;179443673;179443672 |
| N2A | 20127 | 60604;60605;60606 | chr2:178578947;178578946;178578945 | chr2:179443674;179443673;179443672 |
| N2B | 13630 | 41113;41114;41115 | chr2:178578947;178578946;178578945 | chr2:179443674;179443673;179443672 |
| Novex-1 | 13755 | 41488;41489;41490 | chr2:178578947;178578946;178578945 | chr2:179443674;179443673;179443672 |
| Novex-2 | 13822 | 41689;41690;41691 | chr2:178578947;178578946;178578945 | chr2:179443674;179443673;179443672 |
| 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 | rs767279296  |
-0.889 | 0.482 | N | 0.373 | 0.158 | 0.343788945184 | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 3.56E-05 | 0 |
| A/T | rs767279296 |
-0.889 | 0.482 | N | 0.373 | 0.158 | 0.343788945184 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs767279296 |
-0.889 | 0.482 | N | 0.373 | 0.158 | 0.343788945184 | gnomAD-4.0.0 | 4.40141E-05 | None | None | None | None | N | None | 1.33618E-05 | 0 | None | 0 | 4.46887E-05 | None | 0 | 0 | 4.91737E-05 | 6.5879E-05 | 6.40738E-05 |
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 | 0.5198 | ambiguous | 0.5472 | ambiguous | -0.932 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| A/D | 0.9213 | likely_pathogenic | 0.8892 | pathogenic | -0.491 | Destabilizing | 0.988 | D | 0.744 | deleterious | N | 0.48579038 | None | None | N |
| A/E | 0.8971 | likely_pathogenic | 0.8722 | pathogenic | -0.509 | Destabilizing | 0.991 | D | 0.742 | deleterious | None | None | None | None | N |
| A/F | 0.7212 | likely_pathogenic | 0.6934 | pathogenic | -0.85 | Destabilizing | 0.995 | D | 0.768 | deleterious | None | None | None | None | N |
| A/G | 0.3469 | ambiguous | 0.3301 | benign | -0.996 | Destabilizing | 0.958 | D | 0.589 | neutral | N | 0.447408137 | None | None | N |
| A/H | 0.851 | likely_pathogenic | 0.832 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| A/I | 0.5737 | likely_pathogenic | 0.5966 | pathogenic | -0.174 | Destabilizing | 0.991 | D | 0.764 | deleterious | None | None | None | None | N |
| A/K | 0.9548 | likely_pathogenic | 0.9436 | pathogenic | -0.911 | Destabilizing | 0.991 | D | 0.746 | deleterious | None | None | None | None | N |
| A/L | 0.4434 | ambiguous | 0.4279 | ambiguous | -0.174 | Destabilizing | 0.938 | D | 0.622 | neutral | None | None | None | None | N |
| A/M | 0.5285 | ambiguous | 0.5163 | ambiguous | -0.294 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| A/N | 0.6634 | likely_pathogenic | 0.6335 | pathogenic | -0.706 | Destabilizing | 0.991 | D | 0.754 | deleterious | None | None | None | None | N |
| A/P | 0.9469 | likely_pathogenic | 0.943 | pathogenic | -0.317 | Destabilizing | 0.998 | D | 0.765 | deleterious | N | 0.490966913 | None | None | N |
| A/Q | 0.7885 | likely_pathogenic | 0.7716 | pathogenic | -0.787 | Destabilizing | 0.995 | D | 0.777 | deleterious | None | None | None | None | N |
| A/R | 0.9041 | likely_pathogenic | 0.8941 | pathogenic | -0.662 | Destabilizing | 0.991 | D | 0.774 | deleterious | None | None | None | None | N |
| A/S | 0.1374 | likely_benign | 0.125 | benign | -1.145 | Destabilizing | 0.967 | D | 0.533 | neutral | N | 0.418602596 | None | None | N |
| A/T | 0.1845 | likely_benign | 0.1692 | benign | -1.039 | Destabilizing | 0.482 | N | 0.373 | neutral | N | 0.445557124 | None | None | N |
| A/V | 0.2925 | likely_benign | 0.3172 | benign | -0.317 | Destabilizing | 0.919 | D | 0.608 | neutral | N | 0.489273403 | None | None | N |
| A/W | 0.9609 | likely_pathogenic | 0.9616 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| A/Y | 0.8524 | likely_pathogenic | 0.8371 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.767 | 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.