Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2257 | 6994;6995;6996 | chr2:178774942;178774941;178774940 | chr2:179639669;179639668;179639667 |
| N2AB | 2257 | 6994;6995;6996 | chr2:178774942;178774941;178774940 | chr2:179639669;179639668;179639667 |
| N2A | 2257 | 6994;6995;6996 | chr2:178774942;178774941;178774940 | chr2:179639669;179639668;179639667 |
| N2B | 2211 | 6856;6857;6858 | chr2:178774942;178774941;178774940 | chr2:179639669;179639668;179639667 |
| Novex-1 | 2211 | 6856;6857;6858 | chr2:178774942;178774941;178774940 | chr2:179639669;179639668;179639667 |
| Novex-2 | 2211 | 6856;6857;6858 | chr2:178774942;178774941;178774940 | chr2:179639669;179639668;179639667 |
| Novex-3 | 2257 | 6994;6995;6996 | chr2:178774942;178774941;178774940 | chr2:179639669;179639668;179639667 |
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/A | None | None | 0.948 | N | 0.507 | 0.144 | 0.137902524267 | gnomAD-4.0.0 | 1.59137E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85757E-06 | 0 | 0 |
| T/I | None | None | 0.998 | N | 0.78 | 0.316 | 0.282575091529 | gnomAD-4.0.0 | 6.84239E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52245E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs755999681  |
-0.43 | 0.775 | N | 0.321 | 0.154 | 0.0846915920261 | gnomAD-2.1.1 | 7.09E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 9.55158E-04 | None | 0 | None | 0 | 0 | 1.38966E-04 |
| T/S | rs755999681 |
-0.43 | 0.775 | N | 0.321 | 0.154 | 0.0846915920261 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.7759E-04 | None | 0 | 0 | 1.47E-05 | 2.06868E-04 | 4.78011E-04 |
| T/S | rs755999681 |
-0.43 | 0.775 | N | 0.321 | 0.154 | 0.0846915920261 | gnomAD-4.0.0 | 1.73518E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.12235E-04 | None | 0 | 0 | 8.4755E-07 | 9.88121E-05 | 6.40287E-05 |
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 | 0.0947 | likely_benign | 0.0898 | benign | -0.708 | Destabilizing | 0.948 | D | 0.507 | neutral | N | 0.359216503 | None | None | N |
| T/C | 0.4798 | ambiguous | 0.4437 | ambiguous | -0.373 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| T/D | 0.4072 | ambiguous | 0.3972 | ambiguous | -0.237 | Destabilizing | 0.998 | D | 0.737 | prob.delet. | None | None | None | None | N |
| T/E | 0.3062 | likely_benign | 0.2917 | benign | -0.277 | Destabilizing | 0.998 | D | 0.737 | prob.delet. | None | None | None | None | N |
| T/F | 0.2633 | likely_benign | 0.2512 | benign | -0.955 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| T/G | 0.3002 | likely_benign | 0.2857 | benign | -0.915 | Destabilizing | 0.992 | D | 0.671 | neutral | None | None | None | None | N |
| T/H | 0.2416 | likely_benign | 0.2255 | benign | -1.242 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| T/I | 0.1879 | likely_benign | 0.1772 | benign | -0.259 | Destabilizing | 0.998 | D | 0.78 | deleterious | N | 0.408720049 | None | None | N |
| T/K | 0.1625 | likely_benign | 0.1545 | benign | -0.652 | Destabilizing | 0.998 | D | 0.74 | deleterious | None | None | None | None | N |
| T/L | 0.1413 | likely_benign | 0.1348 | benign | -0.259 | Destabilizing | 0.996 | D | 0.647 | neutral | None | None | None | None | N |
| T/M | 0.1072 | likely_benign | 0.1003 | benign | 0.141 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| T/N | 0.1371 | likely_benign | 0.1318 | benign | -0.474 | Destabilizing | 0.997 | D | 0.658 | neutral | N | 0.315019199 | None | None | N |
| T/P | 0.5279 | ambiguous | 0.5029 | ambiguous | -0.378 | Destabilizing | 0.998 | D | 0.779 | deleterious | N | 0.361124002 | None | None | N |
| T/Q | 0.2234 | likely_benign | 0.2047 | benign | -0.744 | Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | N |
| T/R | 0.14 | likely_benign | 0.1318 | benign | -0.339 | Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | N |
| T/S | 0.1024 | likely_benign | 0.0986 | benign | -0.731 | Destabilizing | 0.775 | D | 0.321 | neutral | N | 0.336260026 | None | None | N |
| T/V | 0.1363 | likely_benign | 0.1283 | benign | -0.378 | Destabilizing | 0.996 | D | 0.585 | neutral | None | None | None | None | N |
| T/W | 0.6769 | likely_pathogenic | 0.6498 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| T/Y | 0.3407 | ambiguous | 0.3183 | benign | -0.641 | Destabilizing | 1.0 | D | 0.783 | 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.