Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18694 | 56305;56306;56307 | chr2:178599821;178599820;178599819 | chr2:179464548;179464547;179464546 |
| N2AB | 17053 | 51382;51383;51384 | chr2:178599821;178599820;178599819 | chr2:179464548;179464547;179464546 |
| N2A | 16126 | 48601;48602;48603 | chr2:178599821;178599820;178599819 | chr2:179464548;179464547;179464546 |
| N2B | 9629 | 29110;29111;29112 | chr2:178599821;178599820;178599819 | chr2:179464548;179464547;179464546 |
| Novex-1 | 9754 | 29485;29486;29487 | chr2:178599821;178599820;178599819 | chr2:179464548;179464547;179464546 |
| Novex-2 | 9821 | 29686;29687;29688 | chr2:178599821;178599820;178599819 | chr2:179464548;179464547;179464546 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs566224052  |
-0.772 | 0.454 | N | 0.427 | 0.147 | 0.337378238328 | gnomAD-2.1.1 | 4.25E-06 | None | None | None | None | N | None | 6.65E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| M/I | rs566224052 |
-0.772 | 0.454 | N | 0.427 | 0.147 | 0.337378238328 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/I | rs566224052 |
-0.772 | 0.454 | N | 0.427 | 0.147 | 0.337378238328 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| M/I | rs566224052 |
-0.772 | 0.454 | N | 0.427 | 0.147 | 0.337378238328 | gnomAD-4.0.0 | 2.61243E-06 | None | None | None | None | N | None | 1.71833E-05 | 0 | None | 0 | 2.45218E-05 | None | 0 | 0 | 0 | 0 | 0 |
| M/T | rs2052797392 |
None | 0.891 | N | 0.404 | 0.455 | 0.787786449039 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| M/T | rs2052797392 |
None | 0.891 | N | 0.404 | 0.455 | 0.787786449039 | gnomAD-4.0.0 | 1.25081E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.70342E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.4026 | ambiguous | 0.4101 | ambiguous | -2.646 | Highly Destabilizing | 0.688 | D | 0.407 | neutral | None | None | None | None | N |
| M/C | 0.6755 | likely_pathogenic | 0.6886 | pathogenic | -1.947 | Destabilizing | 0.998 | D | 0.413 | neutral | None | None | None | None | N |
| M/D | 0.8396 | likely_pathogenic | 0.8748 | pathogenic | -1.632 | Destabilizing | 0.991 | D | 0.51 | neutral | None | None | None | None | N |
| M/E | 0.4554 | ambiguous | 0.5215 | ambiguous | -1.493 | Destabilizing | 0.991 | D | 0.488 | neutral | None | None | None | None | N |
| M/F | 0.3976 | ambiguous | 0.4057 | ambiguous | -1.196 | Destabilizing | 0.842 | D | 0.395 | neutral | None | None | None | None | N |
| M/G | 0.7589 | likely_pathogenic | 0.7677 | pathogenic | -3.05 | Highly Destabilizing | 0.991 | D | 0.509 | neutral | None | None | None | None | N |
| M/H | 0.5485 | ambiguous | 0.5805 | pathogenic | -2.11 | Highly Destabilizing | 0.998 | D | 0.474 | neutral | None | None | None | None | N |
| M/I | 0.3162 | likely_benign | 0.3578 | ambiguous | -1.511 | Destabilizing | 0.454 | N | 0.427 | neutral | N | 0.470776147 | None | None | N |
| M/K | 0.241 | likely_benign | 0.2605 | benign | -1.583 | Destabilizing | 0.891 | D | 0.42 | neutral | N | 0.47231773 | None | None | N |
| M/L | 0.1069 | likely_benign | 0.1039 | benign | -1.511 | Destabilizing | 0.002 | N | 0.083 | neutral | N | 0.450862235 | None | None | N |
| M/N | 0.6533 | likely_pathogenic | 0.7082 | pathogenic | -1.634 | Destabilizing | 0.991 | D | 0.483 | neutral | None | None | None | None | N |
| M/P | 0.9642 | likely_pathogenic | 0.9704 | pathogenic | -1.87 | Destabilizing | 0.991 | D | 0.486 | neutral | None | None | None | None | N |
| M/Q | 0.2533 | likely_benign | 0.2758 | benign | -1.553 | Destabilizing | 0.991 | D | 0.402 | neutral | None | None | None | None | N |
| M/R | 0.2682 | likely_benign | 0.2791 | benign | -1.175 | Destabilizing | 0.966 | D | 0.433 | neutral | D | 0.527709653 | None | None | N |
| M/S | 0.4512 | ambiguous | 0.4728 | ambiguous | -2.272 | Highly Destabilizing | 0.915 | D | 0.417 | neutral | None | None | None | None | N |
| M/T | 0.1869 | likely_benign | 0.2032 | benign | -2.021 | Highly Destabilizing | 0.891 | D | 0.404 | neutral | N | 0.494789158 | None | None | N |
| M/V | 0.0982 | likely_benign | 0.1032 | benign | -1.87 | Destabilizing | 0.454 | N | 0.317 | neutral | N | 0.45366768 | None | None | N |
| M/W | 0.6279 | likely_pathogenic | 0.6389 | pathogenic | -1.233 | Destabilizing | 0.998 | D | 0.414 | neutral | None | None | None | None | N |
| M/Y | 0.6431 | likely_pathogenic | 0.6619 | pathogenic | -1.352 | Destabilizing | 0.991 | D | 0.425 | 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.