Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23951 | 72076;72077;72078 | chr2:178574281;178574280;178574279 | chr2:179439008;179439007;179439006 |
| N2AB | 22310 | 67153;67154;67155 | chr2:178574281;178574280;178574279 | chr2:179439008;179439007;179439006 |
| N2A | 21383 | 64372;64373;64374 | chr2:178574281;178574280;178574279 | chr2:179439008;179439007;179439006 |
| N2B | 14886 | 44881;44882;44883 | chr2:178574281;178574280;178574279 | chr2:179439008;179439007;179439006 |
| Novex-1 | 15011 | 45256;45257;45258 | chr2:178574281;178574280;178574279 | chr2:179439008;179439007;179439006 |
| Novex-2 | 15078 | 45457;45458;45459 | chr2:178574281;178574280;178574279 | chr2:179439008;179439007;179439006 |
| 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/A | None | None | 0.285 | N | 0.326 | 0.11 | 0.166414681773 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| T/P | rs1709298098  |
None | 0.662 | N | 0.473 | 0.297 | 0.244539031024 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/P | rs1709298098 |
None | 0.662 | N | 0.473 | 0.297 | 0.244539031024 | gnomAD-4.0.0 | 6.57358E-06 | None | None | None | None | N | None | 2.41266E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | None | None | 0.166 | N | 0.301 | 0.082 | 0.151104730317 | gnomAD-4.0.0 | 1.59267E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88338E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0823 | likely_benign | 0.0902 | benign | -1.152 | Destabilizing | 0.285 | N | 0.326 | neutral | N | 0.465609896 | None | None | N |
| T/C | 0.4207 | ambiguous | 0.4326 | ambiguous | -0.728 | Destabilizing | 0.991 | D | 0.489 | neutral | None | None | None | None | N |
| T/D | 0.1721 | likely_benign | 0.1578 | benign | -0.659 | Destabilizing | 0.001 | N | 0.169 | neutral | None | None | None | None | N |
| T/E | 0.3046 | likely_benign | 0.2863 | benign | -0.557 | Destabilizing | 0.209 | N | 0.459 | neutral | None | None | None | None | N |
| T/F | 0.3907 | ambiguous | 0.4476 | ambiguous | -0.935 | Destabilizing | 0.965 | D | 0.511 | neutral | None | None | None | None | N |
| T/G | 0.2338 | likely_benign | 0.254 | benign | -1.499 | Destabilizing | 0.209 | N | 0.485 | neutral | None | None | None | None | N |
| T/H | 0.2906 | likely_benign | 0.2934 | benign | -1.623 | Destabilizing | 0.901 | D | 0.511 | neutral | None | None | None | None | N |
| T/I | 0.2716 | likely_benign | 0.3053 | benign | -0.277 | Destabilizing | 0.873 | D | 0.491 | neutral | N | 0.469170276 | None | None | N |
| T/K | 0.3551 | ambiguous | 0.3743 | ambiguous | -0.589 | Destabilizing | 0.561 | D | 0.413 | neutral | None | None | None | None | N |
| T/L | 0.1363 | likely_benign | 0.1507 | benign | -0.277 | Destabilizing | 0.722 | D | 0.438 | neutral | None | None | None | None | N |
| T/M | 0.1188 | likely_benign | 0.1291 | benign | -0.108 | Destabilizing | 0.965 | D | 0.495 | neutral | None | None | None | None | N |
| T/N | 0.0767 | likely_benign | 0.0716 | benign | -0.84 | Destabilizing | None | N | 0.079 | neutral | N | 0.426187503 | None | None | N |
| T/P | 0.1408 | likely_benign | 0.1614 | benign | -0.537 | Destabilizing | 0.662 | D | 0.473 | neutral | N | 0.463185666 | None | None | N |
| T/Q | 0.2902 | likely_benign | 0.2787 | benign | -0.863 | Destabilizing | 0.722 | D | 0.471 | neutral | None | None | None | None | N |
| T/R | 0.2968 | likely_benign | 0.3223 | benign | -0.554 | Destabilizing | 0.561 | D | 0.472 | neutral | None | None | None | None | N |
| T/S | 0.0813 | likely_benign | 0.0832 | benign | -1.183 | Destabilizing | 0.166 | N | 0.301 | neutral | N | 0.449677651 | None | None | N |
| T/V | 0.1947 | likely_benign | 0.2184 | benign | -0.537 | Destabilizing | 0.722 | D | 0.275 | neutral | None | None | None | None | N |
| T/W | 0.7351 | likely_pathogenic | 0.7607 | pathogenic | -0.886 | Destabilizing | 0.991 | D | 0.537 | neutral | None | None | None | None | N |
| T/Y | 0.3501 | ambiguous | 0.3566 | ambiguous | -0.61 | Destabilizing | 0.965 | D | 0.509 | 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.