Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9249 | 27970;27971;27972 | chr2:178712085;178712084;178712083 | chr2:179576812;179576811;179576810 |
| N2AB | 8932 | 27019;27020;27021 | chr2:178712085;178712084;178712083 | chr2:179576812;179576811;179576810 |
| N2A | 8005 | 24238;24239;24240 | chr2:178712085;178712084;178712083 | chr2:179576812;179576811;179576810 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1426023267  |
-0.061 | None | N | 0.075 | 0.022 | 0.0138822411134 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| T/A | rs1426023267 |
-0.061 | None | N | 0.075 | 0.022 | 0.0138822411134 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/A | rs1426023267 |
-0.061 | None | N | 0.075 | 0.022 | 0.0138822411134 | gnomAD-4.0.0 | 3.09848E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.238E-06 | 0 | 0 |
| T/M | rs745792278 |
0.114 | 0.017 | N | 0.215 | 0.017 | 0.173771789658 | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 4.13E-05 | 5.66E-05 | None | 0 | 1.53657E-04 | None | 0 | None | 0 | 7.8E-06 | 0 |
| T/M | rs745792278 |
0.114 | 0.017 | N | 0.215 | 0.017 | 0.173771789658 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 1.9305E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/M | rs745792278 |
0.114 | 0.017 | N | 0.215 | 0.017 | 0.173771789658 | gnomAD-4.0.0 | 1.54931E-05 | None | None | None | None | N | None | 5.34145E-05 | 3.33422E-05 | None | 0 | 2.22846E-05 | None | 1.56309E-05 | 0 | 1.01713E-05 | 3.29402E-05 | 3.20246E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0519 | likely_benign | 0.0562 | benign | -0.171 | Destabilizing | None | N | 0.075 | neutral | N | 0.425365492 | None | None | N |
| T/C | 0.3468 | ambiguous | 0.4391 | ambiguous | -0.294 | Destabilizing | 0.245 | N | 0.236 | neutral | None | None | None | None | N |
| T/D | 0.179 | likely_benign | 0.2383 | benign | 0.163 | Stabilizing | None | N | 0.106 | neutral | None | None | None | None | N |
| T/E | 0.1759 | likely_benign | 0.2419 | benign | 0.074 | Stabilizing | None | N | 0.149 | neutral | None | None | None | None | N |
| T/F | 0.1883 | likely_benign | 0.2612 | benign | -0.8 | Destabilizing | 0.138 | N | 0.338 | neutral | None | None | None | None | N |
| T/G | 0.1289 | likely_benign | 0.1438 | benign | -0.247 | Destabilizing | None | N | 0.113 | neutral | None | None | None | None | N |
| T/H | 0.1613 | likely_benign | 0.2083 | benign | -0.444 | Destabilizing | 0.245 | N | 0.271 | neutral | None | None | None | None | N |
| T/I | 0.1236 | likely_benign | 0.1551 | benign | -0.094 | Destabilizing | 0.022 | N | 0.326 | neutral | None | None | None | None | N |
| T/K | 0.1364 | likely_benign | 0.187 | benign | -0.232 | Destabilizing | 0.018 | N | 0.295 | neutral | N | 0.411089473 | None | None | N |
| T/L | 0.0823 | likely_benign | 0.0999 | benign | -0.094 | Destabilizing | 0.009 | N | 0.285 | neutral | None | None | None | None | N |
| T/M | 0.079 | likely_benign | 0.0953 | benign | -0.093 | Destabilizing | 0.017 | N | 0.215 | neutral | N | 0.470292492 | None | None | N |
| T/N | 0.074 | likely_benign | 0.0838 | benign | -0.041 | Destabilizing | 0.009 | N | 0.197 | neutral | None | None | None | None | N |
| T/P | 0.0586 | likely_benign | 0.0597 | benign | -0.094 | Destabilizing | None | N | 0.113 | neutral | N | 0.352657245 | None | None | N |
| T/Q | 0.1358 | likely_benign | 0.1651 | benign | -0.245 | Destabilizing | 0.022 | N | 0.327 | neutral | None | None | None | None | N |
| T/R | 0.1125 | likely_benign | 0.1656 | benign | 0.041 | Stabilizing | 0.08 | N | 0.314 | neutral | N | 0.426885644 | None | None | N |
| T/S | 0.0714 | likely_benign | 0.0758 | benign | -0.217 | Destabilizing | None | N | 0.123 | neutral | N | 0.404219429 | None | None | N |
| T/V | 0.0993 | likely_benign | 0.1192 | benign | -0.094 | Destabilizing | 0.009 | N | 0.191 | neutral | None | None | None | None | N |
| T/W | 0.4594 | ambiguous | 0.5874 | pathogenic | -0.874 | Destabilizing | 0.788 | D | 0.275 | neutral | None | None | None | None | N |
| T/Y | 0.1889 | likely_benign | 0.2445 | benign | -0.552 | Destabilizing | 0.245 | N | 0.33 | 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.