Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33764 | 101515;101516;101517 | chr2:178535325;178535324;178535323 | chr2:179400052;179400051;179400050 |
| N2AB | 32123 | 96592;96593;96594 | chr2:178535325;178535324;178535323 | chr2:179400052;179400051;179400050 |
| N2A | 31196 | 93811;93812;93813 | chr2:178535325;178535324;178535323 | chr2:179400052;179400051;179400050 |
| N2B | 24699 | 74320;74321;74322 | chr2:178535325;178535324;178535323 | chr2:179400052;179400051;179400050 |
| Novex-1 | 24824 | 74695;74696;74697 | chr2:178535325;178535324;178535323 | chr2:179400052;179400051;179400050 |
| Novex-2 | 24891 | 74896;74897;74898 | chr2:178535325;178535324;178535323 | chr2:179400052;179400051;179400050 |
| 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/D | None | -2.459 | 1.0 | D | 0.896 | 0.887 | 0.815499709358 | gnomAD-2.1.1 | 7.13E-06 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.8E-06 | 0 |
| A/D | None | -2.459 | 1.0 | D | 0.896 | 0.887 | 0.815499709358 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 0 | 0 | 0 |
| A/D | None | -2.459 | 1.0 | D | 0.896 | 0.887 | 0.815499709358 | gnomAD-4.0.0 | 1.97179E-05 | None | None | None | None | N | None | 4.82882E-05 | 0 | None | 0 | 0 | None | 0 | 3.16456E-03 | 0 | 0 | 0 |
| A/G | rs773542514  |
-2.959 | 0.291 | D | 0.371 | 0.717 | 0.514755673002 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 5.79E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| A/G | rs773542514 |
-2.959 | 0.291 | D | 0.371 | 0.717 | 0.514755673002 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.30924E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | rs773542514 |
-2.959 | 0.291 | D | 0.371 | 0.717 | 0.514755673002 | gnomAD-4.0.0 | 9.91498E-06 | None | None | None | None | N | None | 0 | 8.33361E-05 | None | 0 | 0 | None | 1.56357E-05 | 1.64366E-04 | 5.08539E-06 | 1.09789E-05 | 3.20174E-05 |
| A/V | rs773542514 |
-1.416 | 1.0 | D | 0.726 | 0.788 | 0.707210613629 | gnomAD-2.1.1 | 4.64E-05 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.36E-05 | 0 |
| A/V | rs773542514 |
-1.416 | 1.0 | D | 0.726 | 0.788 | 0.707210613629 | gnomAD-3.1.2 | 6.57E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.17588E-04 | 0 | 0 |
| A/V | rs773542514 |
-1.416 | 1.0 | D | 0.726 | 0.788 | 0.707210613629 | gnomAD-4.0.0 | 9.85301E-05 | None | None | None | None | N | None | 4.00609E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.2883E-04 | 0 | 6.40348E-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 | 0.8908 | likely_pathogenic | 0.9355 | pathogenic | -1.865 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/D | 0.999 | likely_pathogenic | 0.9994 | pathogenic | -2.897 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.648487217 | None | None | N |
| A/E | 0.9979 | likely_pathogenic | 0.9985 | pathogenic | -2.657 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| A/F | 0.996 | likely_pathogenic | 0.9979 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| A/G | 0.6618 | likely_pathogenic | 0.7333 | pathogenic | -2.39 | Highly Destabilizing | 0.291 | N | 0.371 | neutral | D | 0.60528495 | None | None | N |
| A/H | 0.9986 | likely_pathogenic | 0.9992 | pathogenic | -2.18 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| A/I | 0.9851 | likely_pathogenic | 0.992 | pathogenic | -0.755 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/K | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.479 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/L | 0.9588 | likely_pathogenic | 0.9727 | pathogenic | -0.755 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| A/M | 0.9841 | likely_pathogenic | 0.991 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| A/N | 0.9974 | likely_pathogenic | 0.9984 | pathogenic | -1.972 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| A/P | 0.9844 | likely_pathogenic | 0.9929 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.647881804 | None | None | N |
| A/Q | 0.9948 | likely_pathogenic | 0.9964 | pathogenic | -1.68 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| A/R | 0.9966 | likely_pathogenic | 0.9975 | pathogenic | -1.579 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/S | 0.448 | ambiguous | 0.5247 | ambiguous | -2.323 | Highly Destabilizing | 1.0 | D | 0.593 | neutral | D | 0.557873359 | None | None | N |
| A/T | 0.866 | likely_pathogenic | 0.9271 | pathogenic | -1.973 | Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.621940084 | None | None | N |
| A/V | 0.9102 | likely_pathogenic | 0.9477 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | D | 0.621940084 | None | None | N |
| A/W | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| A/Y | 0.9986 | likely_pathogenic | 0.9992 | pathogenic | -1.136 | Destabilizing | 1.0 | D | 0.92 | 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.