Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15031 | 45316;45317;45318 | chr2:178621733;178621732;178621731 | chr2:179486460;179486459;179486458 |
| N2AB | 13390 | 40393;40394;40395 | chr2:178621733;178621732;178621731 | chr2:179486460;179486459;179486458 |
| N2A | 12463 | 37612;37613;37614 | chr2:178621733;178621732;178621731 | chr2:179486460;179486459;179486458 |
| N2B | 5966 | 18121;18122;18123 | chr2:178621733;178621732;178621731 | chr2:179486460;179486459;179486458 |
| Novex-1 | 6091 | 18496;18497;18498 | chr2:178621733;178621732;178621731 | chr2:179486460;179486459;179486458 |
| Novex-2 | 6158 | 18697;18698;18699 | chr2:178621733;178621732;178621731 | chr2:179486460;179486459;179486458 |
| 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/G | rs780981695  |
-1.052 | 0.994 | D | 0.507 | 0.627 | 0.664964341062 | gnomAD-4.0.0 | 6.85521E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16469E-05 | 0 |
| A/P | rs2058306842 |
None | 0.999 | N | 0.586 | 0.335 | 0.540153309661 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| A/P | rs2058306842 |
None | 0.999 | N | 0.586 | 0.335 | 0.540153309661 | gnomAD-4.0.0 | 6.58614E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| A/V | None | None | 0.733 | D | 0.341 | 0.463 | 0.552575064031 | gnomAD-4.0.0 | 2.74208E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70098E-06 | 0 | 1.6608E-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 | 0.7245 | likely_pathogenic | 0.7939 | pathogenic | -0.728 | Destabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
| A/D | 0.5093 | ambiguous | 0.5587 | ambiguous | -0.279 | Destabilizing | 0.998 | D | 0.614 | neutral | D | 0.67815417 | None | None | N |
| A/E | 0.4705 | ambiguous | 0.5159 | ambiguous | -0.337 | Destabilizing | 0.999 | D | 0.552 | neutral | None | None | None | None | N |
| A/F | 0.6532 | likely_pathogenic | 0.7265 | pathogenic | -0.715 | Destabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | N |
| A/G | 0.2446 | likely_benign | 0.2777 | benign | -0.748 | Destabilizing | 0.994 | D | 0.507 | neutral | D | 0.678072099 | None | None | N |
| A/H | 0.8039 | likely_pathogenic | 0.8432 | pathogenic | -0.875 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| A/I | 0.3746 | ambiguous | 0.5136 | ambiguous | -0.128 | Destabilizing | 0.983 | D | 0.511 | neutral | None | None | None | None | N |
| A/K | 0.8066 | likely_pathogenic | 0.8507 | pathogenic | -0.82 | Destabilizing | 0.999 | D | 0.566 | neutral | None | None | None | None | N |
| A/L | 0.3488 | ambiguous | 0.4492 | ambiguous | -0.128 | Destabilizing | 0.983 | D | 0.497 | neutral | None | None | None | None | N |
| A/M | 0.3717 | ambiguous | 0.4554 | ambiguous | -0.239 | Destabilizing | 1.0 | D | 0.598 | neutral | None | None | None | None | N |
| A/N | 0.4917 | ambiguous | 0.5502 | ambiguous | -0.507 | Destabilizing | 0.999 | D | 0.613 | neutral | None | None | None | None | N |
| A/P | 0.2 | likely_benign | 0.246 | benign | -0.222 | Destabilizing | 0.999 | D | 0.586 | neutral | N | 0.501988167 | None | None | N |
| A/Q | 0.6616 | likely_pathogenic | 0.7086 | pathogenic | -0.637 | Destabilizing | 1.0 | D | 0.6 | neutral | None | None | None | None | N |
| A/R | 0.7458 | likely_pathogenic | 0.786 | pathogenic | -0.553 | Destabilizing | 0.999 | D | 0.595 | neutral | None | None | None | None | N |
| A/S | 0.1418 | likely_benign | 0.1556 | benign | -0.887 | Destabilizing | 0.978 | D | 0.509 | neutral | D | 0.678680361 | None | None | N |
| A/T | 0.1159 | likely_benign | 0.1377 | benign | -0.838 | Destabilizing | 0.733 | D | 0.33 | neutral | D | 0.678811058 | None | None | N |
| A/V | 0.1745 | likely_benign | 0.236 | benign | -0.222 | Destabilizing | 0.733 | D | 0.341 | neutral | D | 0.544753218 | None | None | N |
| A/W | 0.916 | likely_pathogenic | 0.9341 | pathogenic | -1.006 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| A/Y | 0.7558 | likely_pathogenic | 0.8095 | pathogenic | -0.591 | Destabilizing | 1.0 | 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.