Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15572 | 46939;46940;46941 | chr2:178618836;178618835;178618834 | chr2:179483563;179483562;179483561 |
| N2AB | 13931 | 42016;42017;42018 | chr2:178618836;178618835;178618834 | chr2:179483563;179483562;179483561 |
| N2A | 13004 | 39235;39236;39237 | chr2:178618836;178618835;178618834 | chr2:179483563;179483562;179483561 |
| N2B | 6507 | 19744;19745;19746 | chr2:178618836;178618835;178618834 | chr2:179483563;179483562;179483561 |
| Novex-1 | 6632 | 20119;20120;20121 | chr2:178618836;178618835;178618834 | chr2:179483563;179483562;179483561 |
| Novex-2 | 6699 | 20320;20321;20322 | chr2:178618836;178618835;178618834 | chr2:179483563;179483562;179483561 |
| 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 | rs1398854469  |
None | 0.993 | N | 0.701 | 0.404 | 0.480497669815 | gnomAD-4.0.0 | 1.37204E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80094E-06 | 0 | 0 |
| T/R | None | None | 0.997 | N | 0.685 | 0.43 | 0.528662862717 | gnomAD-4.0.0 | 6.86021E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16474E-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 | 0.1147 | likely_benign | 0.1264 | benign | -0.398 | Destabilizing | 0.117 | N | 0.239 | neutral | N | 0.510637139 | None | None | N |
| T/C | 0.506 | ambiguous | 0.55 | ambiguous | -0.345 | Destabilizing | 0.999 | D | 0.639 | neutral | None | None | None | None | N |
| T/D | 0.4889 | ambiguous | 0.5252 | ambiguous | 0.208 | Stabilizing | 0.998 | D | 0.696 | prob.neutral | None | None | None | None | N |
| T/E | 0.3983 | ambiguous | 0.4305 | ambiguous | 0.16 | Stabilizing | 0.995 | D | 0.672 | neutral | None | None | None | None | N |
| T/F | 0.317 | likely_benign | 0.3486 | ambiguous | -0.705 | Destabilizing | 0.998 | D | 0.693 | prob.neutral | None | None | None | None | N |
| T/G | 0.2732 | likely_benign | 0.3 | benign | -0.58 | Destabilizing | 0.966 | D | 0.59 | neutral | None | None | None | None | N |
| T/H | 0.382 | ambiguous | 0.4216 | ambiguous | -0.876 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| T/I | 0.2308 | likely_benign | 0.2646 | benign | -0.031 | Destabilizing | 0.993 | D | 0.701 | prob.neutral | N | 0.510637139 | None | None | N |
| T/K | 0.3114 | likely_benign | 0.3333 | benign | -0.511 | Destabilizing | 0.993 | D | 0.665 | neutral | N | 0.507158356 | None | None | N |
| T/L | 0.1279 | likely_benign | 0.1332 | benign | -0.031 | Destabilizing | 0.983 | D | 0.563 | neutral | None | None | None | None | N |
| T/M | 0.1056 | likely_benign | 0.1123 | benign | 0.019 | Stabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| T/N | 0.1681 | likely_benign | 0.1841 | benign | -0.335 | Destabilizing | 0.998 | D | 0.62 | neutral | None | None | None | None | N |
| T/P | 0.2011 | likely_benign | 0.2075 | benign | -0.122 | Destabilizing | 0.997 | D | 0.699 | prob.neutral | N | 0.513961416 | None | None | N |
| T/Q | 0.3283 | likely_benign | 0.3506 | ambiguous | -0.497 | Destabilizing | 0.998 | D | 0.68 | prob.neutral | None | None | None | None | N |
| T/R | 0.2967 | likely_benign | 0.3194 | benign | -0.29 | Destabilizing | 0.997 | D | 0.685 | prob.neutral | N | 0.508674183 | None | None | N |
| T/S | 0.1637 | likely_benign | 0.1844 | benign | -0.556 | Destabilizing | 0.955 | D | 0.403 | neutral | N | 0.510637139 | None | None | N |
| T/V | 0.1715 | likely_benign | 0.1956 | benign | -0.122 | Destabilizing | 0.966 | D | 0.457 | neutral | None | None | None | None | N |
| T/W | 0.6539 | likely_pathogenic | 0.6623 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| T/Y | 0.3518 | ambiguous | 0.3643 | ambiguous | -0.446 | Destabilizing | 0.999 | D | 0.687 | prob.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.