Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20016 | 60271;60272;60273 | chr2:178591773;178591772;178591771 | chr2:179456500;179456499;179456498 |
| N2AB | 18375 | 55348;55349;55350 | chr2:178591773;178591772;178591771 | chr2:179456500;179456499;179456498 |
| N2A | 17448 | 52567;52568;52569 | chr2:178591773;178591772;178591771 | chr2:179456500;179456499;179456498 |
| N2B | 10951 | 33076;33077;33078 | chr2:178591773;178591772;178591771 | chr2:179456500;179456499;179456498 |
| Novex-1 | 11076 | 33451;33452;33453 | chr2:178591773;178591772;178591771 | chr2:179456500;179456499;179456498 |
| Novex-2 | 11143 | 33652;33653;33654 | chr2:178591773;178591772;178591771 | chr2:179456500;179456499;179456498 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | rs1186164600  |
-2.018 | 1.0 | N | 0.793 | 0.457 | 0.467329424371 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/H | rs1186164600 |
-2.018 | 1.0 | N | 0.793 | 0.457 | 0.467329424371 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | rs1186164600 |
-2.018 | 1.0 | N | 0.793 | 0.457 | 0.467329424371 | gnomAD-4.0.0 | 1.31544E-05 | None | None | None | None | N | None | 4.82649E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.8219 | likely_pathogenic | 0.8298 | pathogenic | -1.685 | Destabilizing | 0.998 | D | 0.744 | deleterious | None | None | None | None | N |
| Y/C | 0.3228 | likely_benign | 0.3029 | benign | -0.852 | Destabilizing | 1.0 | D | 0.814 | deleterious | N | 0.47961858 | None | None | N |
| Y/D | 0.9509 | likely_pathogenic | 0.9509 | pathogenic | -2.625 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.5091585 | None | None | N |
| Y/E | 0.9545 | likely_pathogenic | 0.9582 | pathogenic | -2.405 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| Y/F | 0.1289 | likely_benign | 0.1159 | benign | -0.475 | Destabilizing | 0.434 | N | 0.383 | neutral | N | 0.454110397 | None | None | N |
| Y/G | 0.8464 | likely_pathogenic | 0.8652 | pathogenic | -2.08 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| Y/H | 0.412 | ambiguous | 0.3935 | ambiguous | -1.417 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.496362451 | None | None | N |
| Y/I | 0.7344 | likely_pathogenic | 0.7296 | pathogenic | -0.391 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | None | None | None | None | N |
| Y/K | 0.815 | likely_pathogenic | 0.8433 | pathogenic | -1.494 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| Y/L | 0.6588 | likely_pathogenic | 0.6756 | pathogenic | -0.391 | Destabilizing | 0.994 | D | 0.662 | neutral | None | None | None | None | N |
| Y/M | 0.6754 | likely_pathogenic | 0.6701 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| Y/N | 0.7365 | likely_pathogenic | 0.7276 | pathogenic | -2.424 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | N | 0.5091585 | None | None | N |
| Y/P | 0.998 | likely_pathogenic | 0.9985 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| Y/Q | 0.8235 | likely_pathogenic | 0.8319 | pathogenic | -2.006 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| Y/R | 0.7202 | likely_pathogenic | 0.759 | pathogenic | -1.814 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| Y/S | 0.6917 | likely_pathogenic | 0.6864 | pathogenic | -2.619 | Highly Destabilizing | 1.0 | D | 0.788 | deleterious | N | 0.512715983 | None | None | N |
| Y/T | 0.8536 | likely_pathogenic | 0.8475 | pathogenic | -2.265 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| Y/V | 0.6469 | likely_pathogenic | 0.6397 | pathogenic | -0.833 | Destabilizing | 0.997 | D | 0.713 | prob.delet. | None | None | None | None | N |
| Y/W | 0.5828 | likely_pathogenic | 0.5968 | pathogenic | -0.004 | Destabilizing | 1.0 | D | 0.786 | 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.