Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19403 | 58432;58433;58434 | chr2:178594186;178594185;178594184 | chr2:179458913;179458912;179458911 |
| N2AB | 17762 | 53509;53510;53511 | chr2:178594186;178594185;178594184 | chr2:179458913;179458912;179458911 |
| N2A | 16835 | 50728;50729;50730 | chr2:178594186;178594185;178594184 | chr2:179458913;179458912;179458911 |
| N2B | 10338 | 31237;31238;31239 | chr2:178594186;178594185;178594184 | chr2:179458913;179458912;179458911 |
| Novex-1 | 10463 | 31612;31613;31614 | chr2:178594186;178594185;178594184 | chr2:179458913;179458912;179458911 |
| Novex-2 | 10530 | 31813;31814;31815 | chr2:178594186;178594185;178594184 | chr2:179458913;179458912;179458911 |
| 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/G | rs573503792  |
-0.578 | 0.027 | N | 0.336 | 0.175 | None | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 1.65317E-04 | 5.67E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/G | rs573503792 |
-0.578 | 0.027 | N | 0.336 | 0.175 | None | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | N | None | 1.9305E-04 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | rs573503792 |
-0.578 | 0.027 | N | 0.336 | 0.175 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/G | rs573503792 |
-0.578 | 0.027 | N | 0.336 | 0.175 | None | gnomAD-4.0.0 | 1.05371E-05 | None | None | None | None | N | None | 1.59949E-04 | 3.33645E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.80292E-05 |
| A/P | rs545185154 |
0.011 | None | N | 0.233 | 0.229 | None | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.81405E-04 | None | 0 | None | 0 | 0 | 0 |
| A/P | rs545185154 |
0.011 | None | N | 0.233 | 0.229 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 9.7012E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs545185154 |
0.011 | None | N | 0.233 | 0.229 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| A/P | rs545185154 |
0.011 | None | N | 0.233 | 0.229 | None | gnomAD-4.0.0 | 8.30571E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.97752E-03 | None | 0 | 0 | 0 | 0 | 1.60113E-05 |
| A/V | None | None | 0.117 | N | 0.324 | 0.149 | 0.317084106153 | gnomAD-4.0.0 | 1.36878E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79917E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4924 | ambiguous | 0.4675 | ambiguous | -0.696 | Destabilizing | 0.824 | D | 0.383 | neutral | None | None | None | None | N |
| A/D | 0.2673 | likely_benign | 0.2288 | benign | -0.642 | Destabilizing | 0.062 | N | 0.419 | neutral | N | 0.437619926 | None | None | N |
| A/E | 0.2821 | likely_benign | 0.2439 | benign | -0.69 | Destabilizing | 0.081 | N | 0.358 | neutral | None | None | None | None | N |
| A/F | 0.4086 | ambiguous | 0.3868 | ambiguous | -0.76 | Destabilizing | 0.555 | D | 0.423 | neutral | None | None | None | None | N |
| A/G | 0.1287 | likely_benign | 0.1257 | benign | -0.781 | Destabilizing | 0.027 | N | 0.336 | neutral | N | 0.495726867 | None | None | N |
| A/H | 0.4683 | ambiguous | 0.4173 | ambiguous | -0.798 | Destabilizing | 0.824 | D | 0.407 | neutral | None | None | None | None | N |
| A/I | 0.2724 | likely_benign | 0.2602 | benign | -0.17 | Destabilizing | 0.38 | N | 0.385 | neutral | None | None | None | None | N |
| A/K | 0.4168 | ambiguous | 0.3673 | ambiguous | -0.89 | Destabilizing | 0.081 | N | 0.389 | neutral | None | None | None | None | N |
| A/L | 0.216 | likely_benign | 0.2016 | benign | -0.17 | Destabilizing | 0.149 | N | 0.379 | neutral | None | None | None | None | N |
| A/M | 0.2588 | likely_benign | 0.2427 | benign | -0.287 | Destabilizing | 0.935 | D | 0.374 | neutral | None | None | None | None | N |
| A/N | 0.1973 | likely_benign | 0.1846 | benign | -0.623 | Destabilizing | 0.235 | N | 0.423 | neutral | None | None | None | None | N |
| A/P | 0.1159 | likely_benign | 0.1141 | benign | -0.263 | Destabilizing | None | N | 0.233 | neutral | N | 0.395485302 | None | None | N |
| A/Q | 0.3646 | ambiguous | 0.3259 | benign | -0.768 | Destabilizing | 0.38 | N | 0.383 | neutral | None | None | None | None | N |
| A/R | 0.4076 | ambiguous | 0.3562 | ambiguous | -0.529 | Destabilizing | 0.38 | N | 0.381 | neutral | None | None | None | None | N |
| A/S | 0.0864 | likely_benign | 0.0848 | benign | -0.94 | Destabilizing | None | N | 0.175 | neutral | N | 0.378032905 | None | None | N |
| A/T | 0.0821 | likely_benign | 0.0788 | benign | -0.886 | Destabilizing | 0.001 | N | 0.171 | neutral | N | 0.387807181 | None | None | N |
| A/V | 0.1459 | likely_benign | 0.139 | benign | -0.263 | Destabilizing | 0.117 | N | 0.324 | neutral | N | 0.456131116 | None | None | N |
| A/W | 0.7804 | likely_pathogenic | 0.7341 | pathogenic | -1.058 | Destabilizing | 0.935 | D | 0.546 | neutral | None | None | None | None | N |
| A/Y | 0.4751 | ambiguous | 0.43 | ambiguous | -0.643 | Destabilizing | 0.555 | D | 0.423 | 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.