Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5887 | 17884;17885;17886 | chr2:178731006;178731005;178731004 | chr2:179595733;179595732;179595731 |
| N2AB | 5570 | 16933;16934;16935 | chr2:178731006;178731005;178731004 | chr2:179595733;179595732;179595731 |
| N2A | 4643 | 14152;14153;14154 | chr2:178731006;178731005;178731004 | chr2:179595733;179595732;179595731 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs878956662  |
None | 0.999 | N | 0.594 | 0.247 | 0.185906805712 | gnomAD-4.0.0 | 1.23174E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.61917E-05 | 0 | 0 |
| K/R | rs527439656 |
0.34 | 0.996 | N | 0.486 | 0.169 | 0.199424873507 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 3.27E-05 | None | 0 | 0 | 0 |
| K/R | rs527439656 |
0.34 | 0.996 | N | 0.486 | 0.169 | 0.199424873507 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93125E-04 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs527439656 |
0.34 | 0.996 | N | 0.486 | 0.169 | 0.199424873507 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| K/R | rs527439656 |
0.34 | 0.996 | N | 0.486 | 0.169 | 0.199424873507 | gnomAD-4.0.0 | 5.57734E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22926E-05 | None | 0 | 0 | 8.4767E-07 | 6.5908E-05 | 1.60061E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.2962 | likely_benign | 0.3938 | ambiguous | -0.2 | Destabilizing | 0.997 | D | 0.514 | neutral | None | None | None | None | N |
| K/C | 0.728 | likely_pathogenic | 0.8303 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| K/D | 0.4689 | ambiguous | 0.6047 | pathogenic | 0.043 | Stabilizing | 0.999 | D | 0.524 | neutral | None | None | None | None | N |
| K/E | 0.1269 | likely_benign | 0.1822 | benign | 0.086 | Stabilizing | 0.992 | D | 0.451 | neutral | N | 0.477775825 | None | None | N |
| K/F | 0.6988 | likely_pathogenic | 0.7995 | pathogenic | -0.131 | Destabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
| K/G | 0.3834 | ambiguous | 0.5088 | ambiguous | -0.479 | Destabilizing | 1.0 | D | 0.463 | neutral | None | None | None | None | N |
| K/H | 0.3572 | ambiguous | 0.4446 | ambiguous | -0.76 | Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| K/I | 0.2463 | likely_benign | 0.3286 | benign | 0.478 | Stabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| K/L | 0.2672 | likely_benign | 0.3258 | benign | 0.478 | Stabilizing | 1.0 | D | 0.463 | neutral | None | None | None | None | N |
| K/M | 0.1605 | likely_benign | 0.1984 | benign | 0.273 | Stabilizing | 1.0 | D | 0.61 | neutral | N | 0.495246865 | None | None | N |
| K/N | 0.3211 | likely_benign | 0.4309 | ambiguous | -0.022 | Destabilizing | 0.999 | D | 0.594 | neutral | N | 0.514179342 | None | None | N |
| K/P | 0.4288 | ambiguous | 0.5148 | ambiguous | 0.282 | Stabilizing | 1.0 | D | 0.591 | neutral | None | None | None | None | N |
| K/Q | 0.1187 | likely_benign | 0.1483 | benign | -0.182 | Destabilizing | 0.957 | D | 0.294 | neutral | N | 0.499921966 | None | None | N |
| K/R | 0.0853 | likely_benign | 0.096 | benign | -0.3 | Destabilizing | 0.996 | D | 0.486 | neutral | N | 0.462363655 | None | None | N |
| K/S | 0.3661 | ambiguous | 0.4878 | ambiguous | -0.59 | Destabilizing | 0.997 | D | 0.52 | neutral | None | None | None | None | N |
| K/T | 0.1762 | likely_benign | 0.2275 | benign | -0.377 | Destabilizing | 0.999 | D | 0.537 | neutral | N | 0.48529923 | None | None | N |
| K/V | 0.2571 | likely_benign | 0.3397 | benign | 0.282 | Stabilizing | 1.0 | D | 0.575 | neutral | None | None | None | None | N |
| K/W | 0.6859 | likely_pathogenic | 0.7772 | pathogenic | -0.057 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| K/Y | 0.5367 | ambiguous | 0.6459 | pathogenic | 0.242 | Stabilizing | 1.0 | D | 0.617 | 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.