Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23532 | 70819;70820;70821 | chr2:178575538;178575537;178575536 | chr2:179440265;179440264;179440263 |
| N2AB | 21891 | 65896;65897;65898 | chr2:178575538;178575537;178575536 | chr2:179440265;179440264;179440263 |
| N2A | 20964 | 63115;63116;63117 | chr2:178575538;178575537;178575536 | chr2:179440265;179440264;179440263 |
| N2B | 14467 | 43624;43625;43626 | chr2:178575538;178575537;178575536 | chr2:179440265;179440264;179440263 |
| Novex-1 | 14592 | 43999;44000;44001 | chr2:178575538;178575537;178575536 | chr2:179440265;179440264;179440263 |
| Novex-2 | 14659 | 44200;44201;44202 | chr2:178575538;178575537;178575536 | chr2:179440265;179440264;179440263 |
| 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 | None | None | 0.682 | N | 0.403 | 0.169 | 0.33085137897 | gnomAD-4.0.0 | 6.84252E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99549E-07 | 0 | 0 |
| A/T | None | None | 0.682 | N | 0.577 | 0.173 | 0.346768085243 | gnomAD-4.0.0 | 3.18297E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.54508E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1389381134  |
-0.289 | 0.015 | N | 0.195 | 0.123 | 0.222439326576 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| A/V | rs1389381134 |
-0.289 | 0.015 | N | 0.195 | 0.123 | 0.222439326576 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs1389381134 |
-0.289 | 0.015 | N | 0.195 | 0.123 | 0.222439326576 | gnomAD-4.0.0 | 7.43705E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.01725E-05 | 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 | 0.5682 | likely_pathogenic | 0.5996 | pathogenic | -0.708 | Destabilizing | 0.987 | D | 0.553 | neutral | None | None | None | None | I |
| A/D | 0.5775 | likely_pathogenic | 0.5894 | pathogenic | -0.575 | Destabilizing | 0.833 | D | 0.553 | neutral | None | None | None | None | I |
| A/E | 0.3276 | likely_benign | 0.3448 | ambiguous | -0.725 | Destabilizing | 0.015 | N | 0.277 | neutral | N | 0.509955319 | None | None | I |
| A/F | 0.4397 | ambiguous | 0.4685 | ambiguous | -1.124 | Destabilizing | 0.909 | D | 0.779 | deleterious | None | None | None | None | I |
| A/G | 0.2623 | likely_benign | 0.2801 | benign | -0.353 | Destabilizing | 0.682 | D | 0.403 | neutral | N | 0.47403813 | None | None | I |
| A/H | 0.6346 | likely_pathogenic | 0.6664 | pathogenic | -0.437 | Destabilizing | 0.987 | D | 0.742 | deleterious | None | None | None | None | I |
| A/I | 0.1945 | likely_benign | 0.2125 | benign | -0.44 | Destabilizing | 0.632 | D | 0.566 | neutral | None | None | None | None | I |
| A/K | 0.4822 | ambiguous | 0.5173 | ambiguous | -0.343 | Destabilizing | 0.833 | D | 0.567 | neutral | None | None | None | None | I |
| A/L | 0.2181 | likely_benign | 0.2376 | benign | -0.44 | Destabilizing | 0.587 | D | 0.437 | neutral | None | None | None | None | I |
| A/M | 0.2194 | likely_benign | 0.2436 | benign | -0.278 | Destabilizing | 0.974 | D | 0.535 | neutral | None | None | None | None | I |
| A/N | 0.4025 | ambiguous | 0.441 | ambiguous | -0.131 | Destabilizing | 0.909 | D | 0.788 | deleterious | None | None | None | None | I |
| A/P | 0.1266 | likely_benign | 0.121 | benign | -0.372 | Destabilizing | 0.938 | D | 0.583 | neutral | N | 0.396131168 | None | None | I |
| A/Q | 0.3839 | ambiguous | 0.4101 | ambiguous | -0.473 | Destabilizing | 0.833 | D | 0.564 | neutral | None | None | None | None | I |
| A/R | 0.5044 | ambiguous | 0.5264 | ambiguous | 0.048 | Stabilizing | 0.909 | D | 0.561 | neutral | None | None | None | None | I |
| A/S | 0.1356 | likely_benign | 0.1428 | benign | -0.31 | Destabilizing | 0.682 | D | 0.347 | neutral | N | 0.465390849 | None | None | I |
| A/T | 0.1193 | likely_benign | 0.1205 | benign | -0.395 | Destabilizing | 0.682 | D | 0.577 | neutral | N | 0.477536256 | None | None | I |
| A/V | 0.1077 | likely_benign | 0.1108 | benign | -0.372 | Destabilizing | 0.015 | N | 0.195 | neutral | N | 0.376889259 | None | None | I |
| A/W | 0.873 | likely_pathogenic | 0.8908 | pathogenic | -1.225 | Destabilizing | 0.996 | D | 0.744 | deleterious | None | None | None | None | I |
| A/Y | 0.5905 | likely_pathogenic | 0.616 | pathogenic | -0.834 | Destabilizing | 0.953 | D | 0.775 | deleterious | 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.