Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 69 | 430;431;432 | chr2:178802228;178802227;178802226 | chr2:179666955;179666954;179666953 |
| N2AB | 69 | 430;431;432 | chr2:178802228;178802227;178802226 | chr2:179666955;179666954;179666953 |
| N2A | 69 | 430;431;432 | chr2:178802228;178802227;178802226 | chr2:179666955;179666954;179666953 |
| N2B | 69 | 430;431;432 | chr2:178802228;178802227;178802226 | chr2:179666955;179666954;179666953 |
| Novex-1 | 69 | 430;431;432 | chr2:178802228;178802227;178802226 | chr2:179666955;179666954;179666953 |
| Novex-2 | 69 | 430;431;432 | chr2:178802228;178802227;178802226 | chr2:179666955;179666954;179666953 |
| Novex-3 | 69 | 430;431;432 | chr2:178802228;178802227;178802226 | chr2:179666955;179666954;179666953 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1370693255  |
-0.419 | 0.634 | N | 0.293 | 0.157 | 0.0986583533028 | gnomAD-2.1.1 | 1.77E-05 | None | None | None | -0.624(TCAP) | N | None | 4.01E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.1E-05 | 0 |
| A/T | rs1370693255 |
-0.419 | 0.634 | N | 0.293 | 0.157 | 0.0986583533028 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | -0.624(TCAP) | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs1370693255 |
-0.419 | 0.634 | N | 0.293 | 0.157 | 0.0986583533028 | gnomAD-4.0.0 | 1.11525E-05 | None | None | None | -0.624(TCAP) | N | None | 6.67361E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.10169E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8416 | likely_pathogenic | 0.8645 | pathogenic | -0.851 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | -0.582(TCAP) | N |
| A/D | 0.2749 | likely_benign | 0.3164 | benign | -0.543 | Destabilizing | 0.982 | D | 0.768 | deleterious | N | 0.334403033 | None | -0.719(TCAP) | N |
| A/E | 0.2103 | likely_benign | 0.2393 | benign | -0.679 | Destabilizing | 0.99 | D | 0.662 | neutral | None | None | None | -0.854(TCAP) | N |
| A/F | 0.3626 | ambiguous | 0.4177 | ambiguous | -1.062 | Destabilizing | 0.998 | D | 0.799 | deleterious | None | None | None | -0.085(TCAP) | N |
| A/G | 0.1658 | likely_benign | 0.1777 | benign | -0.619 | Destabilizing | 0.424 | N | 0.501 | neutral | N | 0.415515678 | None | -0.509(TCAP) | N |
| A/H | 0.5199 | ambiguous | 0.5678 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | 0.127(TCAP) | N |
| A/I | 0.3092 | likely_benign | 0.3437 | ambiguous | -0.454 | Destabilizing | 0.996 | D | 0.752 | deleterious | None | None | None | -0.751(TCAP) | N |
| A/K | 0.3995 | ambiguous | 0.4531 | ambiguous | -0.745 | Destabilizing | 0.996 | D | 0.667 | neutral | None | None | None | -1.065(TCAP) | N |
| A/L | 0.1999 | likely_benign | 0.2176 | benign | -0.454 | Destabilizing | 0.974 | D | 0.592 | neutral | None | None | None | -0.751(TCAP) | N |
| A/M | 0.2501 | likely_benign | 0.269 | benign | -0.369 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | -0.511(TCAP) | N |
| A/N | 0.228 | likely_benign | 0.2509 | benign | -0.441 | Destabilizing | 0.892 | D | 0.781 | deleterious | None | None | None | -0.797(TCAP) | N |
| A/P | 0.4361 | ambiguous | 0.4496 | ambiguous | -0.441 | Destabilizing | 0.996 | D | 0.761 | deleterious | N | 0.432037626 | None | -0.684(TCAP) | N |
| A/Q | 0.2792 | likely_benign | 0.3138 | benign | -0.729 | Destabilizing | 0.998 | D | 0.76 | deleterious | None | None | None | -0.795(TCAP) | N |
| A/R | 0.3272 | likely_benign | 0.3884 | ambiguous | -0.288 | Destabilizing | 0.996 | D | 0.753 | deleterious | None | None | None | -1.145(TCAP) | N |
| A/S | 0.0879 | likely_benign | 0.089 | benign | -0.711 | Destabilizing | 0.037 | N | 0.312 | neutral | N | 0.378419141 | None | -0.504(TCAP) | N |
| A/T | 0.0929 | likely_benign | 0.0984 | benign | -0.763 | Destabilizing | 0.634 | D | 0.293 | neutral | N | 0.43426484 | None | -0.624(TCAP) | N |
| A/V | 0.1385 | likely_benign | 0.151 | benign | -0.441 | Destabilizing | 0.914 | D | 0.535 | neutral | N | 0.449139518 | None | -0.684(TCAP) | N |
| A/W | 0.8014 | likely_pathogenic | 0.8558 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | -0.104(TCAP) | N |
| A/Y | 0.5432 | ambiguous | 0.5985 | pathogenic | -0.844 | Destabilizing | 0.999 | D | 0.8 | deleterious | None | None | None | -0.087(TCAP) | 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.