Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21584 | 64975;64976;64977 | chr2:178584891;178584890;178584889 | chr2:179449618;179449617;179449616 |
| N2AB | 19943 | 60052;60053;60054 | chr2:178584891;178584890;178584889 | chr2:179449618;179449617;179449616 |
| N2A | 19016 | 57271;57272;57273 | chr2:178584891;178584890;178584889 | chr2:179449618;179449617;179449616 |
| N2B | 12519 | 37780;37781;37782 | chr2:178584891;178584890;178584889 | chr2:179449618;179449617;179449616 |
| Novex-1 | 12644 | 38155;38156;38157 | chr2:178584891;178584890;178584889 | chr2:179449618;179449617;179449616 |
| Novex-2 | 12711 | 38356;38357;38358 | chr2:178584891;178584890;178584889 | chr2:179449618;179449617;179449616 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs762924797  |
-2.994 | 0.988 | N | 0.802 | 0.463 | 0.51372946856 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/S | rs762924797 |
-2.994 | 0.988 | N | 0.802 | 0.463 | 0.51372946856 | gnomAD-4.0.0 | 1.59223E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43312E-05 | 0 |
| P/T | rs762924797 |
None | 0.988 | D | 0.793 | 0.494 | 0.602613489494 | gnomAD-4.0.0 | 1.59223E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43312E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9716 | likely_pathogenic | 0.9561 | pathogenic | -2.14 | Highly Destabilizing | 0.958 | D | 0.717 | prob.delet. | N | 0.516818276 | None | None | N |
| P/C | 0.9964 | likely_pathogenic | 0.9957 | pathogenic | -1.543 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/D | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -2.811 | Highly Destabilizing | 0.995 | D | 0.817 | deleterious | None | None | None | None | N |
| P/E | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -2.666 | Highly Destabilizing | 0.991 | D | 0.797 | deleterious | None | None | None | None | N |
| P/F | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.409 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/G | 0.9948 | likely_pathogenic | 0.994 | pathogenic | -2.608 | Highly Destabilizing | 0.991 | D | 0.846 | deleterious | None | None | None | None | N |
| P/H | 0.9978 | likely_pathogenic | 0.9981 | pathogenic | -2.348 | Highly Destabilizing | 0.998 | D | 0.879 | deleterious | D | 0.56342204 | None | None | N |
| P/I | 0.9979 | likely_pathogenic | 0.9976 | pathogenic | -0.862 | Destabilizing | 0.995 | D | 0.889 | deleterious | None | None | None | None | N |
| P/K | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -2.012 | Highly Destabilizing | 0.938 | D | 0.759 | deleterious | None | None | None | None | N |
| P/L | 0.9869 | likely_pathogenic | 0.9868 | pathogenic | -0.862 | Destabilizing | 0.988 | D | 0.881 | deleterious | D | 0.550291308 | None | None | N |
| P/M | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -0.671 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/N | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -2.127 | Highly Destabilizing | 0.991 | D | 0.879 | deleterious | None | None | None | None | N |
| P/Q | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -2.103 | Highly Destabilizing | 0.991 | D | 0.821 | deleterious | None | None | None | None | N |
| P/R | 0.9968 | likely_pathogenic | 0.9976 | pathogenic | -1.597 | Destabilizing | 0.142 | N | 0.656 | neutral | D | 0.545064295 | None | None | N |
| P/S | 0.9916 | likely_pathogenic | 0.9891 | pathogenic | -2.66 | Highly Destabilizing | 0.988 | D | 0.802 | deleterious | N | 0.501423046 | None | None | N |
| P/T | 0.9928 | likely_pathogenic | 0.9906 | pathogenic | -2.397 | Highly Destabilizing | 0.988 | D | 0.793 | deleterious | D | 0.536163525 | None | None | N |
| P/V | 0.9942 | likely_pathogenic | 0.9926 | pathogenic | -1.26 | Destabilizing | 0.995 | D | 0.879 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.914 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.572 | Destabilizing | 1.0 | D | 0.899 | 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.