Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35607 | 107044;107045;107046 | chr2:178528932;178528931;178528930 | chr2:179393659;179393658;179393657 |
| N2AB | 33966 | 102121;102122;102123 | chr2:178528932;178528931;178528930 | chr2:179393659;179393658;179393657 |
| N2A | 33039 | 99340;99341;99342 | chr2:178528932;178528931;178528930 | chr2:179393659;179393658;179393657 |
| N2B | 26542 | 79849;79850;79851 | chr2:178528932;178528931;178528930 | chr2:179393659;179393658;179393657 |
| Novex-1 | 26667 | 80224;80225;80226 | chr2:178528932;178528931;178528930 | chr2:179393659;179393658;179393657 |
| Novex-2 | 26734 | 80425;80426;80427 | chr2:178528932;178528931;178528930 | chr2:179393659;179393658;179393657 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | None | None | 0.322 | N | 0.305 | 0.205 | 0.346315397577 | gnomAD-4.0.0 | 6.8414E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99395E-07 | 0 | 0 |
| A/V | rs377337528  |
-0.06 | 0.001 | N | 0.138 | 0.085 | None | gnomAD-2.1.1 | 1.21232E-04 | None | None | None | None | I | None | 1.65289E-04 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 2.26117E-04 | 0 |
| A/V | rs377337528 |
-0.06 | 0.001 | N | 0.138 | 0.085 | None | gnomAD-3.1.2 | 9.2E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.61712E-04 | 0 | 0 |
| A/V | rs377337528 |
-0.06 | 0.001 | N | 0.138 | 0.085 | None | gnomAD-4.0.0 | 1.69162E-04 | None | None | None | None | I | None | 8.01068E-05 | 1.66656E-05 | None | 0 | 0 | None | 0 | 0 | 2.22056E-04 | 0 | 6.40389E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7167 | likely_pathogenic | 0.6179 | pathogenic | -1.034 | Destabilizing | 0.981 | D | 0.301 | neutral | None | None | None | None | I |
| A/D | 0.4015 | ambiguous | 0.3457 | ambiguous | -0.531 | Destabilizing | 0.322 | N | 0.305 | neutral | N | 0.470736075 | None | None | I |
| A/E | 0.3124 | likely_benign | 0.2793 | benign | -0.66 | Destabilizing | 0.386 | N | 0.286 | neutral | None | None | None | None | I |
| A/F | 0.5077 | ambiguous | 0.4306 | ambiguous | -0.934 | Destabilizing | 0.688 | D | 0.335 | neutral | None | None | None | None | I |
| A/G | 0.1854 | likely_benign | 0.1574 | benign | -0.388 | Destabilizing | 0.164 | N | 0.205 | neutral | N | 0.470562717 | None | None | I |
| A/H | 0.6031 | likely_pathogenic | 0.544 | ambiguous | -0.228 | Destabilizing | 0.981 | D | 0.305 | neutral | None | None | None | None | I |
| A/I | 0.3733 | ambiguous | 0.2883 | benign | -0.516 | Destabilizing | 0.239 | N | 0.28 | neutral | None | None | None | None | I |
| A/K | 0.4803 | ambiguous | 0.4316 | ambiguous | -0.689 | Destabilizing | 0.008 | N | 0.223 | neutral | None | None | None | None | I |
| A/L | 0.2845 | likely_benign | 0.2315 | benign | -0.516 | Destabilizing | 0.115 | N | 0.303 | neutral | None | None | None | None | I |
| A/M | 0.3658 | ambiguous | 0.2885 | benign | -0.798 | Destabilizing | 0.817 | D | 0.294 | neutral | None | None | None | None | I |
| A/N | 0.3904 | ambiguous | 0.3221 | benign | -0.471 | Destabilizing | 0.386 | N | 0.327 | neutral | None | None | None | None | I |
| A/P | 0.3137 | likely_benign | 0.2833 | benign | -0.445 | Destabilizing | 0.49 | N | 0.328 | neutral | N | 0.470562717 | None | None | I |
| A/Q | 0.4171 | ambiguous | 0.3769 | ambiguous | -0.687 | Destabilizing | 0.688 | D | 0.322 | neutral | None | None | None | None | I |
| A/R | 0.3977 | ambiguous | 0.364 | ambiguous | -0.267 | Destabilizing | 0.239 | N | 0.313 | neutral | None | None | None | None | I |
| A/S | 0.1156 | likely_benign | 0.1013 | benign | -0.686 | Destabilizing | 0.089 | N | 0.306 | neutral | N | 0.470042642 | None | None | I |
| A/T | 0.1092 | likely_benign | 0.0888 | benign | -0.739 | Destabilizing | 0.001 | N | 0.104 | neutral | N | 0.469522567 | None | None | I |
| A/V | 0.1801 | likely_benign | 0.1421 | benign | -0.445 | Destabilizing | 0.001 | N | 0.138 | neutral | N | 0.470389358 | None | None | I |
| A/W | 0.8285 | likely_pathogenic | 0.7729 | pathogenic | -1.014 | Destabilizing | 0.981 | D | 0.349 | neutral | None | None | None | None | I |
| A/Y | 0.6328 | likely_pathogenic | 0.5551 | ambiguous | -0.735 | Destabilizing | 0.817 | D | 0.336 | neutral | None | None | None | None | I |
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.