Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9334 | 28225;28226;28227 | chr2:178711236;178711235;178711234 | chr2:179575963;179575962;179575961 |
| N2AB | 9017 | 27274;27275;27276 | chr2:178711236;178711235;178711234 | chr2:179575963;179575962;179575961 |
| N2A | 8090 | 24493;24494;24495 | chr2:178711236;178711235;178711234 | chr2:179575963;179575962;179575961 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs555411623  |
-1.282 | 1.0 | None | 0.74 | 0.828 | 0.929143421364 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92901E-04 | None | 0 | 0 | 0 | 0 | 0 |
| W/C | rs555411623 |
-1.282 | 1.0 | None | 0.74 | 0.828 | 0.929143421364 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| W/C | rs555411623 |
-1.282 | 1.0 | None | 0.74 | 0.828 | 0.929143421364 | gnomAD-4.0.0 | 6.57168E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93349E-04 | None | 0 | 0 | 0 | 0 | 0 |
| W/S | None | None | 1.0 | None | 0.811 | 0.811 | 0.968639366473 | gnomAD-4.0.0 | 6.84175E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99447E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9939 | likely_pathogenic | 0.9899 | pathogenic | -2.705 | Highly Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| W/C | 0.9964 | likely_pathogenic | 0.9925 | pathogenic | -1.542 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| W/D | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.298 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| W/E | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -2.162 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| W/F | 0.5297 | ambiguous | 0.4804 | ambiguous | -1.53 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| W/G | 0.9839 | likely_pathogenic | 0.9778 | pathogenic | -2.957 | Highly Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| W/H | 0.9974 | likely_pathogenic | 0.9969 | pathogenic | -1.852 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| W/I | 0.9636 | likely_pathogenic | 0.9409 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| W/K | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.886 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| W/L | 0.9263 | likely_pathogenic | 0.8791 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| W/M | 0.9881 | likely_pathogenic | 0.9788 | pathogenic | -1.44 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| W/N | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -2.471 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/P | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -2.108 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.279 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| W/R | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| W/S | 0.9932 | likely_pathogenic | 0.9896 | pathogenic | -2.806 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| W/T | 0.9947 | likely_pathogenic | 0.9919 | pathogenic | -2.606 | Highly Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| W/V | 0.9655 | likely_pathogenic | 0.9425 | pathogenic | -2.108 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| W/Y | 0.9161 | likely_pathogenic | 0.8856 | pathogenic | -1.291 | Destabilizing | 1.0 | D | 0.803 | deleterious | 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.