Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7260 | 22003;22004;22005 | chr2:178723229;178723228;178723227 | chr2:179587956;179587955;179587954 |
| N2AB | 6943 | 21052;21053;21054 | chr2:178723229;178723228;178723227 | chr2:179587956;179587955;179587954 |
| N2A | 6016 | 18271;18272;18273 | chr2:178723229;178723228;178723227 | chr2:179587956;179587955;179587954 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs187925021  |
None | 0.029 | N | 0.548 | 0.226 | 0.595842844361 | gnomAD-4.0.0 | 6.84306E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99551E-07 | 0 | 0 |
| S/Y | rs187925021 |
-0.46 | None | N | 0.335 | 0.222 | None | gnomAD-2.1.1 | 3.61452E-03 | None | None | None | None | I | None | 2.39848E-03 | 1.13372E-03 | None | 1.74452E-03 | 5.13E-05 | None | 2.71728E-02 | None | 4E-05 | 3.69485E-04 | 1.83305E-03 |
| S/Y | rs187925021 |
-0.46 | None | N | 0.335 | 0.222 | None | gnomAD-3.1.2 | 2.01812E-03 | None | None | None | None | I | None | 2.58192E-03 | 1.5076E-03 | 0 | 1.72911E-03 | 0 | None | 0 | 9.49367E-03 | 3.82297E-04 | 2.92046E-02 | 4.77555E-04 |
| S/Y | rs187925021 |
-0.46 | None | N | 0.335 | 0.222 | None | 1000 genomes | 8.1869E-03 | None | None | None | None | I | None | 1.5E-03 | 2.9E-03 | None | None | 0 | 1E-03 | None | None | None | 3.68E-02 | None |
| S/Y | rs187925021 |
-0.46 | None | N | 0.335 | 0.222 | None | gnomAD-4.0.0 | 1.98565E-03 | None | None | None | None | I | None | 2.5062E-03 | 1.18381E-03 | None | 1.58859E-03 | 4.45971E-05 | None | 0 | 1.98085E-03 | 2.20401E-04 | 2.69249E-02 | 2.75394E-03 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0671 | likely_benign | 0.0672 | benign | -0.306 | Destabilizing | None | N | 0.145 | neutral | N | 0.510318757 | None | None | I |
| S/C | 0.1259 | likely_benign | 0.1212 | benign | -0.425 | Destabilizing | 0.295 | N | 0.525 | neutral | D | 0.531668345 | None | None | I |
| S/D | 0.2697 | likely_benign | 0.2597 | benign | 0.084 | Stabilizing | 0.072 | N | 0.363 | neutral | None | None | None | None | I |
| S/E | 0.3319 | likely_benign | 0.3092 | benign | 0.046 | Stabilizing | 0.072 | N | 0.323 | neutral | None | None | None | None | I |
| S/F | 0.1083 | likely_benign | 0.107 | benign | -0.691 | Destabilizing | 0.029 | N | 0.548 | neutral | N | 0.486812554 | None | None | I |
| S/G | 0.1327 | likely_benign | 0.1248 | benign | -0.496 | Destabilizing | 0.016 | N | 0.339 | neutral | None | None | None | None | I |
| S/H | 0.2097 | likely_benign | 0.1949 | benign | -0.963 | Destabilizing | 0.214 | N | 0.536 | neutral | None | None | None | None | I |
| S/I | 0.1181 | likely_benign | 0.1221 | benign | 0.073 | Stabilizing | 0.001 | N | 0.366 | neutral | None | None | None | None | I |
| S/K | 0.3559 | ambiguous | 0.3336 | benign | -0.547 | Destabilizing | 0.072 | N | 0.321 | neutral | None | None | None | None | I |
| S/L | 0.0738 | likely_benign | 0.0775 | benign | 0.073 | Stabilizing | None | N | 0.289 | neutral | None | None | None | None | I |
| S/M | 0.1526 | likely_benign | 0.1561 | benign | 0.058 | Stabilizing | 0.214 | N | 0.541 | neutral | None | None | None | None | I |
| S/N | 0.1271 | likely_benign | 0.1237 | benign | -0.455 | Destabilizing | 0.072 | N | 0.417 | neutral | None | None | None | None | I |
| S/P | 0.5044 | ambiguous | 0.4896 | ambiguous | -0.02 | Destabilizing | 0.171 | N | 0.591 | neutral | N | 0.496927865 | None | None | I |
| S/Q | 0.328 | likely_benign | 0.3113 | benign | -0.575 | Destabilizing | 0.356 | N | 0.465 | neutral | None | None | None | None | I |
| S/R | 0.287 | likely_benign | 0.2576 | benign | -0.419 | Destabilizing | 0.214 | N | 0.591 | neutral | None | None | None | None | I |
| S/T | 0.0702 | likely_benign | 0.0673 | benign | -0.455 | Destabilizing | None | N | 0.139 | neutral | N | 0.463122243 | None | None | I |
| S/V | 0.1229 | likely_benign | 0.1264 | benign | -0.02 | Destabilizing | 0.016 | N | 0.351 | neutral | None | None | None | None | I |
| S/W | 0.2076 | likely_benign | 0.2062 | benign | -0.744 | Destabilizing | 0.676 | D | 0.515 | neutral | None | None | None | None | I |
| S/Y | 0.1089 | likely_benign | 0.117 | benign | -0.435 | Destabilizing | None | N | 0.335 | neutral | N | 0.493307014 | 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.