Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19143 | 57652;57653;57654 | chr2:178597655;178597654;178597653 | chr2:179462382;179462381;179462380 |
| N2AB | 17502 | 52729;52730;52731 | chr2:178597655;178597654;178597653 | chr2:179462382;179462381;179462380 |
| N2A | 16575 | 49948;49949;49950 | chr2:178597655;178597654;178597653 | chr2:179462382;179462381;179462380 |
| N2B | 10078 | 30457;30458;30459 | chr2:178597655;178597654;178597653 | chr2:179462382;179462381;179462380 |
| Novex-1 | 10203 | 30832;30833;30834 | chr2:178597655;178597654;178597653 | chr2:179462382;179462381;179462380 |
| Novex-2 | 10270 | 31033;31034;31035 | chr2:178597655;178597654;178597653 | chr2:179462382;179462381;179462380 |
| 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/P | None | None | 0.896 | N | 0.445 | 0.34 | 0.420939154896 | gnomAD-4.0.0 | 1.59228E-06 | None | None | None | None | N | None | 0 | 2.28843E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs540167353  |
0.032 | 0.004 | N | 0.282 | 0.122 | 0.345175991111 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs540167353 |
0.032 | 0.004 | N | 0.282 | 0.122 | 0.345175991111 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/V | rs540167353 |
0.032 | 0.004 | N | 0.282 | 0.122 | 0.345175991111 | gnomAD-4.0.0 | 6.57289E-06 | None | None | None | None | N | None | 0 | 6.5445E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6557 | likely_pathogenic | 0.6542 | pathogenic | -0.939 | Destabilizing | 0.977 | D | 0.427 | neutral | None | None | None | None | N |
| A/D | 0.3386 | likely_benign | 0.3329 | benign | -0.477 | Destabilizing | 0.81 | D | 0.499 | neutral | N | 0.425777363 | None | None | N |
| A/E | 0.3479 | ambiguous | 0.3403 | ambiguous | -0.617 | Destabilizing | 0.617 | D | 0.425 | neutral | None | None | None | None | N |
| A/F | 0.5145 | ambiguous | 0.5293 | ambiguous | -0.937 | Destabilizing | 0.85 | D | 0.547 | neutral | None | None | None | None | N |
| A/G | 0.1578 | likely_benign | 0.1605 | benign | -0.3 | Destabilizing | 0.002 | N | 0.278 | neutral | N | 0.406999602 | None | None | N |
| A/H | 0.5913 | likely_pathogenic | 0.5953 | pathogenic | -0.255 | Destabilizing | 0.992 | D | 0.551 | neutral | None | None | None | None | N |
| A/I | 0.3444 | ambiguous | 0.336 | benign | -0.483 | Destabilizing | 0.217 | N | 0.421 | neutral | None | None | None | None | N |
| A/K | 0.639 | likely_pathogenic | 0.6327 | pathogenic | -0.574 | Destabilizing | 0.617 | D | 0.429 | neutral | None | None | None | None | N |
| A/L | 0.2334 | likely_benign | 0.2313 | benign | -0.483 | Destabilizing | 0.447 | N | 0.431 | neutral | None | None | None | None | N |
| A/M | 0.2963 | likely_benign | 0.2941 | benign | -0.651 | Destabilizing | 0.955 | D | 0.451 | neutral | None | None | None | None | N |
| A/N | 0.2431 | likely_benign | 0.247 | benign | -0.334 | Destabilizing | 0.85 | D | 0.506 | neutral | None | None | None | None | N |
| A/P | 0.2009 | likely_benign | 0.1916 | benign | -0.399 | Destabilizing | 0.896 | D | 0.445 | neutral | N | 0.442285611 | None | None | N |
| A/Q | 0.4202 | ambiguous | 0.4065 | ambiguous | -0.564 | Destabilizing | 0.92 | D | 0.44 | neutral | None | None | None | None | N |
| A/R | 0.6239 | likely_pathogenic | 0.6115 | pathogenic | -0.174 | Destabilizing | 0.92 | D | 0.445 | neutral | None | None | None | None | N |
| A/S | 0.0862 | likely_benign | 0.0841 | benign | -0.539 | Destabilizing | 0.045 | N | 0.286 | neutral | N | 0.407306246 | None | None | N |
| A/T | 0.1003 | likely_benign | 0.0997 | benign | -0.605 | Destabilizing | 0.379 | N | 0.403 | neutral | N | 0.473107163 | None | None | N |
| A/V | 0.1787 | likely_benign | 0.173 | benign | -0.399 | Destabilizing | 0.004 | N | 0.282 | neutral | N | 0.463370172 | None | None | N |
| A/W | 0.867 | likely_pathogenic | 0.8645 | pathogenic | -1.023 | Destabilizing | 0.992 | D | 0.603 | neutral | None | None | None | None | N |
| A/Y | 0.6234 | likely_pathogenic | 0.6323 | pathogenic | -0.731 | Destabilizing | 0.92 | D | 0.551 | 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.