Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22900 | 68923;68924;68925 | chr2:178577728;178577727;178577726 | chr2:179442455;179442454;179442453 |
| N2AB | 21259 | 64000;64001;64002 | chr2:178577728;178577727;178577726 | chr2:179442455;179442454;179442453 |
| N2A | 20332 | 61219;61220;61221 | chr2:178577728;178577727;178577726 | chr2:179442455;179442454;179442453 |
| N2B | 13835 | 41728;41729;41730 | chr2:178577728;178577727;178577726 | chr2:179442455;179442454;179442453 |
| Novex-1 | 13960 | 42103;42104;42105 | chr2:178577728;178577727;178577726 | chr2:179442455;179442454;179442453 |
| Novex-2 | 14027 | 42304;42305;42306 | chr2:178577728;178577727;178577726 | chr2:179442455;179442454;179442453 |
| 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/D | rs780862555  |
-1.256 | 0.998 | N | 0.764 | 0.369 | 0.515149029962 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.93E-05 | 0 |
| A/D | rs780862555 |
-1.256 | 0.998 | N | 0.764 | 0.369 | 0.515149029962 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/D | rs780862555 |
-1.256 | 0.998 | N | 0.764 | 0.369 | 0.515149029962 | gnomAD-4.0.0 | 1.23975E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69553E-05 | 0 | 0 |
| A/G | None | None | 0.979 | N | 0.508 | 0.295 | 0.369495900351 | gnomAD-4.0.0 | 2.73754E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69885E-06 | 0 | 1.65717E-05 |
| A/P | None | None | 0.998 | N | 0.78 | 0.445 | 0.486135451721 | gnomAD-4.0.0 | 6.84367E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15969E-05 | 0 |
| A/T | rs2046756286 |
None | 0.958 | N | 0.582 | 0.257 | 0.366848117066 | gnomAD-4.0.0 | 1.43717E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.88917E-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 | 0.3727 | ambiguous | 0.3919 | ambiguous | -0.46 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| A/D | 0.5316 | ambiguous | 0.5937 | pathogenic | -1.719 | Destabilizing | 0.998 | D | 0.764 | deleterious | N | 0.515865358 | None | None | N |
| A/E | 0.3627 | ambiguous | 0.4302 | ambiguous | -1.544 | Destabilizing | 0.995 | D | 0.757 | deleterious | None | None | None | None | N |
| A/F | 0.3477 | ambiguous | 0.3846 | ambiguous | -0.467 | Destabilizing | 0.991 | D | 0.807 | deleterious | None | None | None | None | N |
| A/G | 0.207 | likely_benign | 0.2285 | benign | -1.046 | Destabilizing | 0.979 | D | 0.508 | neutral | N | 0.497626314 | None | None | N |
| A/H | 0.4947 | ambiguous | 0.523 | ambiguous | -1.583 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| A/I | 0.2521 | likely_benign | 0.2848 | benign | 0.55 | Stabilizing | 0.938 | D | 0.649 | neutral | None | None | None | None | N |
| A/K | 0.5394 | ambiguous | 0.6005 | pathogenic | -0.9 | Destabilizing | 0.995 | D | 0.757 | deleterious | None | None | None | None | N |
| A/L | 0.209 | likely_benign | 0.2308 | benign | 0.55 | Stabilizing | 0.938 | D | 0.534 | neutral | None | None | None | None | N |
| A/M | 0.2517 | likely_benign | 0.2855 | benign | 0.417 | Stabilizing | 0.999 | D | 0.793 | deleterious | None | None | None | None | N |
| A/N | 0.3304 | likely_benign | 0.3562 | ambiguous | -1.107 | Destabilizing | 0.998 | D | 0.809 | deleterious | None | None | None | None | N |
| A/P | 0.8002 | likely_pathogenic | 0.7948 | pathogenic | 0.21 | Stabilizing | 0.998 | D | 0.78 | deleterious | N | 0.501607982 | None | None | N |
| A/Q | 0.3573 | ambiguous | 0.3933 | ambiguous | -0.944 | Destabilizing | 0.998 | D | 0.813 | deleterious | None | None | None | None | N |
| A/R | 0.4409 | ambiguous | 0.4904 | ambiguous | -1.005 | Destabilizing | 0.995 | D | 0.792 | deleterious | None | None | None | None | N |
| A/S | 0.1012 | likely_benign | 0.1083 | benign | -1.469 | Destabilizing | 0.979 | D | 0.495 | neutral | N | 0.410948692 | None | None | N |
| A/T | 0.1049 | likely_benign | 0.1217 | benign | -1.168 | Destabilizing | 0.958 | D | 0.582 | neutral | N | 0.432339897 | None | None | N |
| A/V | 0.1522 | likely_benign | 0.17 | benign | 0.21 | Stabilizing | 0.142 | N | 0.367 | neutral | N | 0.487331962 | None | None | N |
| A/W | 0.7995 | likely_pathogenic | 0.8229 | pathogenic | -1.267 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/Y | 0.4693 | ambiguous | 0.5076 | ambiguous | -0.587 | Destabilizing | 0.995 | D | 0.814 | deleterious | 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.