Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28563 | 85912;85913;85914 | chr2:178560445;178560444;178560443 | chr2:179425172;179425171;179425170 |
| N2AB | 26922 | 80989;80990;80991 | chr2:178560445;178560444;178560443 | chr2:179425172;179425171;179425170 |
| N2A | 25995 | 78208;78209;78210 | chr2:178560445;178560444;178560443 | chr2:179425172;179425171;179425170 |
| N2B | 19498 | 58717;58718;58719 | chr2:178560445;178560444;178560443 | chr2:179425172;179425171;179425170 |
| Novex-1 | 19623 | 59092;59093;59094 | chr2:178560445;178560444;178560443 | chr2:179425172;179425171;179425170 |
| Novex-2 | 19690 | 59293;59294;59295 | chr2:178560445;178560444;178560443 | chr2:179425172;179425171;179425170 |
| 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/N | rs1186514108  |
-0.796 | 0.1 | N | 0.274 | 0.212 | 0.255270683199 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 5.82E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/N | rs1186514108 |
-0.796 | 0.1 | N | 0.274 | 0.212 | 0.255270683199 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | rs1186514108 |
-0.796 | 0.1 | N | 0.274 | 0.212 | 0.255270683199 | gnomAD-4.0.0 | 3.84537E-06 | None | None | None | None | N | None | 0 | 5.08906E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1864 | likely_benign | 0.1598 | benign | -0.769 | Destabilizing | 0.76 | D | 0.458 | neutral | N | 0.521620681 | None | None | N |
| T/C | 0.5962 | likely_pathogenic | 0.5549 | ambiguous | -0.683 | Destabilizing | 0.999 | D | 0.495 | neutral | None | None | None | None | N |
| T/D | 0.5322 | ambiguous | 0.5257 | ambiguous | -1.267 | Destabilizing | 0.91 | D | 0.439 | neutral | None | None | None | None | N |
| T/E | 0.6713 | likely_pathogenic | 0.6306 | pathogenic | -1.231 | Destabilizing | 0.953 | D | 0.435 | neutral | None | None | None | None | N |
| T/F | 0.6305 | likely_pathogenic | 0.5257 | ambiguous | -0.844 | Destabilizing | 0.998 | D | 0.581 | neutral | None | None | None | None | N |
| T/G | 0.2106 | likely_benign | 0.1818 | benign | -1.052 | Destabilizing | 0.91 | D | 0.445 | neutral | None | None | None | None | N |
| T/H | 0.506 | ambiguous | 0.456 | ambiguous | -1.433 | Destabilizing | 0.998 | D | 0.563 | neutral | None | None | None | None | N |
| T/I | 0.769 | likely_pathogenic | 0.6861 | pathogenic | -0.096 | Destabilizing | 0.991 | D | 0.496 | neutral | N | 0.520827066 | None | None | N |
| T/K | 0.506 | ambiguous | 0.466 | ambiguous | -0.857 | Destabilizing | 0.953 | D | 0.438 | neutral | None | None | None | None | N |
| T/L | 0.2805 | likely_benign | 0.2199 | benign | -0.096 | Destabilizing | 0.953 | D | 0.438 | neutral | None | None | None | None | N |
| T/M | 0.174 | likely_benign | 0.1509 | benign | 0.253 | Stabilizing | 0.999 | D | 0.479 | neutral | None | None | None | None | N |
| T/N | 0.1454 | likely_benign | 0.1318 | benign | -1.07 | Destabilizing | 0.1 | N | 0.274 | neutral | N | 0.47867662 | None | None | N |
| T/P | 0.7626 | likely_pathogenic | 0.7267 | pathogenic | -0.288 | Destabilizing | 0.991 | D | 0.493 | neutral | D | 0.527575016 | None | None | N |
| T/Q | 0.4053 | ambiguous | 0.3702 | ambiguous | -1.251 | Destabilizing | 0.986 | D | 0.501 | neutral | None | None | None | None | N |
| T/R | 0.454 | ambiguous | 0.4201 | ambiguous | -0.641 | Destabilizing | 0.986 | D | 0.497 | neutral | None | None | None | None | N |
| T/S | 0.1131 | likely_benign | 0.1023 | benign | -1.194 | Destabilizing | 0.17 | N | 0.275 | neutral | N | 0.465417895 | None | None | N |
| T/V | 0.5766 | likely_pathogenic | 0.4913 | ambiguous | -0.288 | Destabilizing | 0.953 | D | 0.457 | neutral | None | None | None | None | N |
| T/W | 0.877 | likely_pathogenic | 0.8467 | pathogenic | -0.869 | Destabilizing | 0.999 | D | 0.577 | neutral | None | None | None | None | N |
| T/Y | 0.6478 | likely_pathogenic | 0.5807 | pathogenic | -0.565 | Destabilizing | 0.998 | D | 0.585 | 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.