Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31455 | 94588;94589;94590 | chr2:178547162;178547161;178547160 | chr2:179411889;179411888;179411887 |
| N2AB | 29814 | 89665;89666;89667 | chr2:178547162;178547161;178547160 | chr2:179411889;179411888;179411887 |
| N2A | 28887 | 86884;86885;86886 | chr2:178547162;178547161;178547160 | chr2:179411889;179411888;179411887 |
| N2B | 22390 | 67393;67394;67395 | chr2:178547162;178547161;178547160 | chr2:179411889;179411888;179411887 |
| Novex-1 | 22515 | 67768;67769;67770 | chr2:178547162;178547161;178547160 | chr2:179411889;179411888;179411887 |
| Novex-2 | 22582 | 67969;67970;67971 | chr2:178547162;178547161;178547160 | chr2:179411889;179411888;179411887 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/G | None | None | 1.0 | D | 0.643 | 0.685 | 0.524792858863 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| W/R | rs1697563457  |
None | 1.0 | D | 0.721 | 0.639 | 0.799177201931 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9991 | likely_pathogenic | 0.9987 | pathogenic | -3.029 | Highly Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| W/C | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | N | 0.521869661 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.74 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| W/E | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.678 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/F | 0.8778 | likely_pathogenic | 0.8552 | pathogenic | -1.931 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| W/G | 0.9956 | likely_pathogenic | 0.9941 | pathogenic | -3.221 | Highly Destabilizing | 1.0 | D | 0.643 | neutral | D | 0.539213448 | None | None | N |
| W/H | 0.9982 | likely_pathogenic | 0.9976 | pathogenic | -1.539 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| W/I | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -2.334 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.583 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/L | 0.9943 | likely_pathogenic | 0.9933 | pathogenic | -2.334 | Highly Destabilizing | 1.0 | D | 0.643 | neutral | D | 0.525829226 | None | None | N |
| W/M | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.681 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| W/N | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -1.894 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| W/P | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -2.582 | Highly Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.924 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -0.946 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | D | 0.538959958 | None | None | N |
| W/S | 0.9982 | likely_pathogenic | 0.9976 | pathogenic | -2.313 | Highly Destabilizing | 1.0 | D | 0.72 | prob.delet. | N | 0.511954933 | None | None | N |
| W/T | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -2.206 | Highly Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| W/V | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -2.582 | Highly Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| W/Y | 0.9663 | likely_pathogenic | 0.957 | pathogenic | -1.778 | Destabilizing | 1.0 | D | 0.607 | 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.