Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23286 | 70081;70082;70083 | chr2:178576276;178576275;178576274 | chr2:179441003;179441002;179441001 |
| N2AB | 21645 | 65158;65159;65160 | chr2:178576276;178576275;178576274 | chr2:179441003;179441002;179441001 |
| N2A | 20718 | 62377;62378;62379 | chr2:178576276;178576275;178576274 | chr2:179441003;179441002;179441001 |
| N2B | 14221 | 42886;42887;42888 | chr2:178576276;178576275;178576274 | chr2:179441003;179441002;179441001 |
| Novex-1 | 14346 | 43261;43262;43263 | chr2:178576276;178576275;178576274 | chr2:179441003;179441002;179441001 |
| Novex-2 | 14413 | 43462;43463;43464 | chr2:178576276;178576275;178576274 | chr2:179441003;179441002;179441001 |
| 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 | rs1465961266  |
None | None | N | 0.179 | 0.077 | 0.193865811164 | gnomAD-4.0.0 | 6.87762E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.117E-06 | 0 | 1.66689E-05 |
| A/T | rs1710048909 |
None | None | N | 0.125 | 0.071 | 0.0551355673512 | gnomAD-4.0.0 | 4.83852E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.65841E-06 | 0 | 0 |
| A/V | rs1465961266 |
-0.147 | 0.012 | N | 0.287 | 0.046 | 0.176091768786 | gnomAD-2.1.1 | 4.16E-06 | None | None | None | None | N | None | 0 | 2.98E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs1465961266 |
-0.147 | 0.012 | N | 0.287 | 0.046 | 0.176091768786 | gnomAD-4.0.0 | 6.87762E-07 | None | None | None | None | N | None | 0 | 2.29316E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.2925 | likely_benign | 0.2979 | benign | -0.634 | Destabilizing | 0.676 | D | 0.338 | neutral | None | None | None | None | N |
| A/D | 0.0995 | likely_benign | 0.0965 | benign | -0.743 | Destabilizing | None | N | 0.179 | neutral | N | 0.36917664 | None | None | N |
| A/E | 0.0894 | likely_benign | 0.0901 | benign | -0.874 | Destabilizing | None | N | 0.169 | neutral | None | None | None | None | N |
| A/F | 0.2168 | likely_benign | 0.2194 | benign | -0.963 | Destabilizing | 0.356 | N | 0.436 | neutral | None | None | None | None | N |
| A/G | 0.1028 | likely_benign | 0.0986 | benign | -0.592 | Destabilizing | None | N | 0.152 | neutral | N | 0.426627433 | None | None | N |
| A/H | 0.2252 | likely_benign | 0.2228 | benign | -0.662 | Destabilizing | 0.356 | N | 0.429 | neutral | None | None | None | None | N |
| A/I | 0.118 | likely_benign | 0.1257 | benign | -0.399 | Destabilizing | 0.038 | N | 0.373 | neutral | None | None | None | None | N |
| A/K | 0.1578 | likely_benign | 0.1558 | benign | -0.866 | Destabilizing | 0.001 | N | 0.219 | neutral | None | None | None | None | N |
| A/L | 0.1058 | likely_benign | 0.1075 | benign | -0.399 | Destabilizing | 0.016 | N | 0.375 | neutral | None | None | None | None | N |
| A/M | 0.1212 | likely_benign | 0.1273 | benign | -0.399 | Destabilizing | 0.356 | N | 0.359 | neutral | None | None | None | None | N |
| A/N | 0.0912 | likely_benign | 0.0925 | benign | -0.441 | Destabilizing | 0.016 | N | 0.381 | neutral | None | None | None | None | N |
| A/P | 0.1737 | likely_benign | 0.1779 | benign | -0.393 | Destabilizing | 0.106 | N | 0.333 | neutral | N | 0.475594816 | None | None | N |
| A/Q | 0.1499 | likely_benign | 0.1493 | benign | -0.72 | Destabilizing | 0.038 | N | 0.335 | neutral | None | None | None | None | N |
| A/R | 0.1987 | likely_benign | 0.1925 | benign | -0.37 | Destabilizing | 0.038 | N | 0.351 | neutral | None | None | None | None | N |
| A/S | 0.0755 | likely_benign | 0.0751 | benign | -0.631 | Destabilizing | None | N | 0.156 | neutral | N | 0.41902667 | None | None | N |
| A/T | 0.0601 | likely_benign | 0.0631 | benign | -0.687 | Destabilizing | None | N | 0.125 | neutral | N | 0.418240024 | None | None | N |
| A/V | 0.0778 | likely_benign | 0.0797 | benign | -0.393 | Destabilizing | 0.012 | N | 0.287 | neutral | N | 0.435633706 | None | None | N |
| A/W | 0.5356 | ambiguous | 0.5365 | ambiguous | -1.148 | Destabilizing | 0.864 | D | 0.441 | neutral | None | None | None | None | N |
| A/Y | 0.2604 | likely_benign | 0.26 | benign | -0.803 | Destabilizing | 0.356 | N | 0.437 | 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.