Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23997 | 72214;72215;72216 | chr2:178574143;178574142;178574141 | chr2:179438870;179438869;179438868 |
| N2AB | 22356 | 67291;67292;67293 | chr2:178574143;178574142;178574141 | chr2:179438870;179438869;179438868 |
| N2A | 21429 | 64510;64511;64512 | chr2:178574143;178574142;178574141 | chr2:179438870;179438869;179438868 |
| N2B | 14932 | 45019;45020;45021 | chr2:178574143;178574142;178574141 | chr2:179438870;179438869;179438868 |
| Novex-1 | 15057 | 45394;45395;45396 | chr2:178574143;178574142;178574141 | chr2:179438870;179438869;179438868 |
| Novex-2 | 15124 | 45595;45596;45597 | chr2:178574143;178574142;178574141 | chr2:179438870;179438869;179438868 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1709236478  |
None | 0.948 | N | 0.661 | 0.478 | 0.602933245068 | gnomAD-4.0.0 | 4.77509E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.7183E-06 | 0 | 3.02444E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9981 | likely_pathogenic | 0.9986 | pathogenic | -2.813 | Highly Destabilizing | 0.996 | D | 0.785 | deleterious | None | None | None | None | N |
| F/C | 0.982 | likely_pathogenic | 0.9875 | pathogenic | -1.72 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.554544042 | None | None | N |
| F/D | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.848 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| F/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -3.607 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| F/G | 0.9978 | likely_pathogenic | 0.9983 | pathogenic | -3.264 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| F/H | 0.9973 | likely_pathogenic | 0.9974 | pathogenic | -2.348 | Highly Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| F/I | 0.9319 | likely_pathogenic | 0.956 | pathogenic | -1.31 | Destabilizing | 0.733 | D | 0.355 | neutral | N | 0.515721277 | None | None | N |
| F/K | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.556 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| F/L | 0.9918 | likely_pathogenic | 0.9948 | pathogenic | -1.31 | Destabilizing | 0.948 | D | 0.661 | neutral | N | 0.516988725 | None | None | N |
| F/M | 0.9703 | likely_pathogenic | 0.9797 | pathogenic | -0.977 | Destabilizing | 0.999 | D | 0.716 | prob.delet. | None | None | None | None | N |
| F/N | 0.9983 | likely_pathogenic | 0.9986 | pathogenic | -3.303 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.828 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| F/Q | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -3.091 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| F/R | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.365 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| F/S | 0.9984 | likely_pathogenic | 0.9988 | pathogenic | -3.688 | Highly Destabilizing | 0.999 | D | 0.796 | deleterious | D | 0.565900348 | None | None | N |
| F/T | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -3.323 | Highly Destabilizing | 0.999 | D | 0.78 | deleterious | None | None | None | None | N |
| F/V | 0.9512 | likely_pathogenic | 0.9661 | pathogenic | -1.828 | Destabilizing | 0.978 | D | 0.738 | prob.delet. | N | 0.500562629 | None | None | N |
| F/W | 0.9476 | likely_pathogenic | 0.9528 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| F/Y | 0.6167 | likely_pathogenic | 0.6583 | pathogenic | -1.16 | Destabilizing | 0.998 | D | 0.598 | neutral | N | 0.510320135 | 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.