Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35464 | 106615;106616;106617 | chr2:178530101;178530100;178530099 | chr2:179394828;179394827;179394826 |
| N2AB | 33823 | 101692;101693;101694 | chr2:178530101;178530100;178530099 | chr2:179394828;179394827;179394826 |
| N2A | 32896 | 98911;98912;98913 | chr2:178530101;178530100;178530099 | chr2:179394828;179394827;179394826 |
| N2B | 26399 | 79420;79421;79422 | chr2:178530101;178530100;178530099 | chr2:179394828;179394827;179394826 |
| Novex-1 | 26524 | 79795;79796;79797 | chr2:178530101;178530100;178530099 | chr2:179394828;179394827;179394826 |
| Novex-2 | 26591 | 79996;79997;79998 | chr2:178530101;178530100;178530099 | chr2:179394828;179394827;179394826 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs528138560  |
-0.442 | None | N | 0.279 | 0.131 | 0.0716867268079 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92308E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs528138560 |
-0.442 | None | N | 0.279 | 0.131 | 0.0716867268079 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| G/D | rs528138560 |
-0.442 | None | N | 0.279 | 0.131 | 0.0716867268079 | gnomAD-4.0.0 | 2.59754E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.85838E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | None | None | 0.278 | N | 0.472 | 0.082 | 0.317958651998 | gnomAD-4.0.0 | 6.89775E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.20831E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.092 | likely_benign | 0.0998 | benign | -0.137 | Destabilizing | 0.022 | N | 0.417 | neutral | N | 0.481664279 | None | None | N |
| G/C | 0.165 | likely_benign | 0.1649 | benign | -0.741 | Destabilizing | 0.746 | D | 0.611 | neutral | N | 0.491575137 | None | None | N |
| G/D | 0.0838 | likely_benign | 0.0821 | benign | -0.647 | Destabilizing | None | N | 0.279 | neutral | N | 0.44337525 | None | None | N |
| G/E | 0.1046 | likely_benign | 0.1039 | benign | -0.8 | Destabilizing | 0.068 | N | 0.409 | neutral | None | None | None | None | N |
| G/F | 0.2917 | likely_benign | 0.3141 | benign | -0.9 | Destabilizing | 0.338 | N | 0.578 | neutral | None | None | None | None | N |
| G/H | 0.2 | likely_benign | 0.2126 | benign | -0.355 | Destabilizing | 0.796 | D | 0.51 | neutral | None | None | None | None | N |
| G/I | 0.1307 | likely_benign | 0.1362 | benign | -0.303 | Destabilizing | 0.081 | N | 0.551 | neutral | None | None | None | None | N |
| G/K | 0.1811 | likely_benign | 0.1954 | benign | -0.717 | Destabilizing | 0.203 | N | 0.432 | neutral | None | None | None | None | N |
| G/L | 0.1925 | likely_benign | 0.2085 | benign | -0.303 | Destabilizing | 0.068 | N | 0.523 | neutral | None | None | None | None | N |
| G/M | 0.26 | likely_benign | 0.2811 | benign | -0.502 | Destabilizing | 0.658 | D | 0.582 | neutral | None | None | None | None | N |
| G/N | 0.1124 | likely_benign | 0.1166 | benign | -0.301 | Destabilizing | 0.203 | N | 0.367 | neutral | None | None | None | None | N |
| G/P | 0.3629 | ambiguous | 0.398 | ambiguous | -0.217 | Destabilizing | 0.338 | N | 0.474 | neutral | None | None | None | None | N |
| G/Q | 0.1552 | likely_benign | 0.1648 | benign | -0.573 | Destabilizing | 0.338 | N | 0.472 | neutral | None | None | None | None | N |
| G/R | 0.1331 | likely_benign | 0.1379 | benign | -0.29 | Destabilizing | 0.278 | N | 0.472 | neutral | N | 0.440625733 | None | None | N |
| G/S | 0.0607 | likely_benign | 0.0636 | benign | -0.407 | Destabilizing | 0.001 | N | 0.248 | neutral | N | 0.457920627 | None | None | N |
| G/T | 0.0961 | likely_benign | 0.1044 | benign | -0.497 | Destabilizing | 0.068 | N | 0.405 | neutral | None | None | None | None | N |
| G/V | 0.1062 | likely_benign | 0.1121 | benign | -0.217 | Destabilizing | 0.001 | N | 0.401 | neutral | N | 0.464570112 | None | None | N |
| G/W | 0.2814 | likely_benign | 0.2831 | benign | -1.068 | Destabilizing | 0.922 | D | 0.585 | neutral | None | None | None | None | N |
| G/Y | 0.2211 | likely_benign | 0.23 | benign | -0.711 | Destabilizing | 0.508 | D | 0.576 | 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.