Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5792 | 17599;17600;17601 | chr2:178731392;178731391;178731390 | chr2:179596119;179596118;179596117 |
| N2AB | 5475 | 16648;16649;16650 | chr2:178731392;178731391;178731390 | chr2:179596119;179596118;179596117 |
| N2A | 4548 | 13867;13868;13869 | chr2:178731392;178731391;178731390 | chr2:179596119;179596118;179596117 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs1041967765  |
-1.341 | 0.966 | N | 0.568 | 0.366 | 0.158396225186 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| I/M | rs1041967765 |
-1.341 | 0.966 | N | 0.568 | 0.366 | 0.158396225186 | gnomAD-4.0.0 | 6.36478E-06 | None | None | None | None | N | None | 0 | 4.57289E-05 | None | 0 | 0 | None | 0 | 0 | 5.71644E-06 | 0 | 0 |
| I/T | rs1225094303 |
-2.196 | 0.051 | N | 0.331 | 0.344 | 0.181679512989 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 5.79E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs1225094303 |
-2.196 | 0.051 | N | 0.331 | 0.344 | 0.181679512989 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs1225094303 |
-2.196 | 0.051 | N | 0.331 | 0.344 | 0.181679512989 | gnomAD-4.0.0 | 6.40544E-06 | None | None | None | None | N | None | 0 | 5.08457E-05 | None | 0 | 0 | None | 0 | 0 | 4.78586E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.4484 | ambiguous | 0.4019 | ambiguous | -2.359 | Highly Destabilizing | 0.029 | N | 0.319 | neutral | None | None | None | None | N |
| I/C | 0.8648 | likely_pathogenic | 0.8314 | pathogenic | -2.395 | Highly Destabilizing | 0.991 | D | 0.565 | neutral | None | None | None | None | N |
| I/D | 0.9678 | likely_pathogenic | 0.9609 | pathogenic | -3.0 | Highly Destabilizing | 0.974 | D | 0.638 | neutral | None | None | None | None | N |
| I/E | 0.9377 | likely_pathogenic | 0.9263 | pathogenic | -2.914 | Highly Destabilizing | 0.915 | D | 0.594 | neutral | None | None | None | None | N |
| I/F | 0.4996 | ambiguous | 0.4273 | ambiguous | -1.725 | Destabilizing | 0.966 | D | 0.59 | neutral | D | 0.532696972 | None | None | N |
| I/G | 0.885 | likely_pathogenic | 0.8608 | pathogenic | -2.748 | Highly Destabilizing | 0.842 | D | 0.564 | neutral | None | None | None | None | N |
| I/H | 0.9553 | likely_pathogenic | 0.948 | pathogenic | -1.897 | Destabilizing | 0.998 | D | 0.573 | neutral | None | None | None | None | N |
| I/K | 0.9079 | likely_pathogenic | 0.9008 | pathogenic | -1.887 | Destabilizing | 0.915 | D | 0.618 | neutral | None | None | None | None | N |
| I/L | 0.1788 | likely_benign | 0.1698 | benign | -1.288 | Destabilizing | 0.267 | N | 0.345 | neutral | N | 0.445133915 | None | None | N |
| I/M | 0.1373 | likely_benign | 0.1209 | benign | -1.388 | Destabilizing | 0.966 | D | 0.568 | neutral | N | 0.513841852 | None | None | N |
| I/N | 0.741 | likely_pathogenic | 0.7281 | pathogenic | -2.081 | Highly Destabilizing | 0.966 | D | 0.629 | neutral | D | 0.533043688 | None | None | N |
| I/P | 0.8514 | likely_pathogenic | 0.8308 | pathogenic | -1.623 | Destabilizing | 0.974 | D | 0.628 | neutral | None | None | None | None | N |
| I/Q | 0.9143 | likely_pathogenic | 0.9019 | pathogenic | -2.232 | Highly Destabilizing | 0.991 | D | 0.639 | neutral | None | None | None | None | N |
| I/R | 0.869 | likely_pathogenic | 0.8557 | pathogenic | -1.295 | Destabilizing | 0.974 | D | 0.627 | neutral | None | None | None | None | N |
| I/S | 0.6268 | likely_pathogenic | 0.5836 | pathogenic | -2.701 | Highly Destabilizing | 0.669 | D | 0.493 | neutral | N | 0.479825279 | None | None | N |
| I/T | 0.2581 | likely_benign | 0.2354 | benign | -2.49 | Highly Destabilizing | 0.051 | N | 0.331 | neutral | N | 0.457641853 | None | None | N |
| I/V | 0.0956 | likely_benign | 0.0956 | benign | -1.623 | Destabilizing | 0.005 | N | 0.141 | neutral | N | 0.355893204 | None | None | N |
| I/W | 0.9612 | likely_pathogenic | 0.9452 | pathogenic | -1.884 | Destabilizing | 0.998 | D | 0.577 | neutral | None | None | None | None | N |
| I/Y | 0.9107 | likely_pathogenic | 0.8911 | pathogenic | -1.648 | Destabilizing | 0.991 | D | 0.619 | 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.