Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16013 | 48262;48263;48264 | chr2:178616852;178616851;178616850 | chr2:179481579;179481578;179481577 |
| N2AB | 14372 | 43339;43340;43341 | chr2:178616852;178616851;178616850 | chr2:179481579;179481578;179481577 |
| N2A | 13445 | 40558;40559;40560 | chr2:178616852;178616851;178616850 | chr2:179481579;179481578;179481577 |
| N2B | 6948 | 21067;21068;21069 | chr2:178616852;178616851;178616850 | chr2:179481579;179481578;179481577 |
| Novex-1 | 7073 | 21442;21443;21444 | chr2:178616852;178616851;178616850 | chr2:179481579;179481578;179481577 |
| Novex-2 | 7140 | 21643;21644;21645 | chr2:178616852;178616851;178616850 | chr2:179481579;179481578;179481577 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs746576156  |
0.081 | 0.978 | D | 0.649 | 0.432 | 0.498513350342 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 0 | 1.66389E-04 |
| T/I | rs746576156 |
0.081 | 0.978 | D | 0.649 | 0.432 | 0.498513350342 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| T/I | rs746576156 |
0.081 | 0.978 | D | 0.649 | 0.432 | 0.498513350342 | gnomAD-4.0.0 | 3.10079E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.68911E-05 | 0 | 8.48053E-07 | 0 | 1.60277E-05 |
| T/N | rs746576156 |
-0.304 | 0.999 | N | 0.703 | 0.327 | 0.451692371253 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| T/N | rs746576156 |
-0.304 | 0.999 | N | 0.703 | 0.327 | 0.451692371253 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| T/N | rs746576156 |
-0.304 | 0.999 | N | 0.703 | 0.327 | 0.451692371253 | gnomAD-4.0.0 | 2.48063E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.39271E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1262 | likely_benign | 0.1222 | benign | -1.022 | Destabilizing | 0.543 | D | 0.345 | neutral | D | 0.539373904 | None | None | N |
| T/C | 0.4484 | ambiguous | 0.4302 | ambiguous | -0.601 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| T/D | 0.4263 | ambiguous | 0.4207 | ambiguous | -0.851 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | N |
| T/E | 0.3939 | ambiguous | 0.384 | ambiguous | -0.776 | Destabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | N |
| T/F | 0.287 | likely_benign | 0.2987 | benign | -0.795 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | None | None | N |
| T/G | 0.3225 | likely_benign | 0.3163 | benign | -1.367 | Destabilizing | 0.992 | D | 0.691 | prob.neutral | None | None | None | None | N |
| T/H | 0.3353 | likely_benign | 0.3222 | benign | -1.656 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| T/I | 0.1996 | likely_benign | 0.1954 | benign | -0.158 | Destabilizing | 0.978 | D | 0.649 | neutral | D | 0.530861734 | None | None | N |
| T/K | 0.3445 | ambiguous | 0.3315 | benign | -0.983 | Destabilizing | 0.999 | D | 0.663 | neutral | None | None | None | None | N |
| T/L | 0.1288 | likely_benign | 0.1316 | benign | -0.158 | Destabilizing | 0.983 | D | 0.613 | neutral | None | None | None | None | N |
| T/M | 0.1114 | likely_benign | 0.1056 | benign | 0.086 | Stabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| T/N | 0.1271 | likely_benign | 0.1207 | benign | -1.136 | Destabilizing | 0.999 | D | 0.703 | prob.neutral | N | 0.507075925 | None | None | N |
| T/P | 0.1592 | likely_benign | 0.1541 | benign | -0.413 | Destabilizing | 0.998 | D | 0.716 | prob.delet. | D | 0.628126256 | None | None | N |
| T/Q | 0.3222 | likely_benign | 0.2979 | benign | -1.138 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| T/R | 0.3022 | likely_benign | 0.3105 | benign | -0.913 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | N |
| T/S | 0.1519 | likely_benign | 0.1473 | benign | -1.36 | Destabilizing | 0.978 | D | 0.629 | neutral | N | 0.507964228 | None | None | N |
| T/V | 0.1617 | likely_benign | 0.1612 | benign | -0.413 | Destabilizing | 0.611 | D | 0.37 | neutral | None | None | None | None | N |
| T/W | 0.6367 | likely_pathogenic | 0.6462 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| T/Y | 0.2865 | likely_benign | 0.2902 | benign | -0.573 | Destabilizing | 1.0 | D | 0.765 | 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.