Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6259 | 19000;19001;19002 | chr2:178729381;178729380;178729379 | chr2:179594108;179594107;179594106 |
| N2AB | 5942 | 18049;18050;18051 | chr2:178729381;178729380;178729379 | chr2:179594108;179594107;179594106 |
| N2A | 5015 | 15268;15269;15270 | chr2:178729381;178729380;178729379 | chr2:179594108;179594107;179594106 |
| 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 | rs780049500  |
-1.061 | 0.003 | N | 0.273 | 0.119 | 0.158396225186 | gnomAD-2.1.1 | 1.00818E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 8.17367E-04 | None | 0 | 0 | 0 |
| T/A | rs780049500 |
-1.061 | 0.003 | N | 0.273 | 0.119 | 0.158396225186 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| T/A | rs780049500 |
-1.061 | 0.003 | N | 0.273 | 0.119 | 0.158396225186 | gnomAD-4.0.0 | 3.65663E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.25796E-04 | 3.20246E-05 |
| T/N | rs72648949 |
-1.386 | None | N | 0.121 | 0.089 | 0.276482976112 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/N | rs72648949 |
-1.386 | None | N | 0.121 | 0.089 | 0.276482976112 | gnomAD-4.0.0 | 6.84286E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| T/S | rs72648949 |
-1.471 | None | N | 0.106 | 0.096 | 0.12205267543 | gnomAD-2.1.1 | 3.08967E-03 | None | None | None | None | N | None | 5.38302E-04 | 1.44394E-03 | None | 3.21172E-02 | 0 | None | 1.079E-03 | None | 3.59827E-04 | 3.11764E-03 | 4.07876E-03 |
| T/S | rs72648949 |
-1.471 | None | N | 0.106 | 0.096 | 0.12205267543 | gnomAD-3.1.2 | 2.62369E-03 | None | None | None | None | N | None | 3.13888E-04 | 3.92927E-03 | 0 | 2.76976E-02 | 0 | None | 4.71342E-04 | 9.49367E-03 | 2.9705E-03 | 1.44928E-03 | 6.2201E-03 |
| T/S | rs72648949 |
-1.471 | None | N | 0.106 | 0.096 | 0.12205267543 | 1000 genomes | 5.99042E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 1E-03 | None | None | None | 1E-03 | None |
| T/S | rs72648949 |
-1.471 | None | N | 0.106 | 0.096 | 0.12205267543 | gnomAD-4.0.0 | 2.74608E-03 | None | None | None | None | N | None | 6.13448E-04 | 2.05034E-03 | None | 3.36015E-02 | 0 | None | 3.75E-04 | 1.27231E-02 | 2.33459E-03 | 1.30652E-03 | 4.70611E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0669 | likely_benign | 0.0715 | benign | -0.722 | Destabilizing | 0.003 | N | 0.273 | neutral | N | 0.465159684 | None | None | N |
| T/C | 0.2615 | likely_benign | 0.2774 | benign | -0.601 | Destabilizing | 0.245 | N | 0.411 | neutral | None | None | None | None | N |
| T/D | 0.2337 | likely_benign | 0.2616 | benign | -1.385 | Destabilizing | None | N | 0.116 | neutral | None | None | None | None | N |
| T/E | 0.186 | likely_benign | 0.217 | benign | -1.328 | Destabilizing | 0.004 | N | 0.381 | neutral | None | None | None | None | N |
| T/F | 0.1289 | likely_benign | 0.1346 | benign | -0.721 | Destabilizing | 0.022 | N | 0.466 | neutral | None | None | None | None | N |
| T/G | 0.1369 | likely_benign | 0.1393 | benign | -1.03 | Destabilizing | 0.009 | N | 0.408 | neutral | None | None | None | None | N |
| T/H | 0.1343 | likely_benign | 0.1448 | benign | -1.398 | Destabilizing | None | N | 0.153 | neutral | None | None | None | None | N |
| T/I | 0.1051 | likely_benign | 0.1116 | benign | 0.025 | Stabilizing | 0.017 | N | 0.461 | neutral | N | 0.492405 | None | None | N |
| T/K | 0.1258 | likely_benign | 0.1476 | benign | -0.829 | Destabilizing | 0.009 | N | 0.415 | neutral | None | None | None | None | N |
| T/L | 0.062 | likely_benign | 0.0639 | benign | 0.025 | Stabilizing | 0.003 | N | 0.402 | neutral | None | None | None | None | N |
| T/M | 0.0751 | likely_benign | 0.0759 | benign | 0.377 | Stabilizing | 0.002 | N | 0.286 | neutral | None | None | None | None | N |
| T/N | 0.0767 | likely_benign | 0.0806 | benign | -1.132 | Destabilizing | None | N | 0.121 | neutral | N | 0.457964353 | None | None | N |
| T/P | 0.0956 | likely_benign | 0.0934 | benign | -0.191 | Destabilizing | 0.033 | N | 0.451 | neutral | N | 0.481649289 | None | None | N |
| T/Q | 0.1306 | likely_benign | 0.1417 | benign | -1.248 | Destabilizing | 0.002 | N | 0.169 | neutral | None | None | None | None | N |
| T/R | 0.096 | likely_benign | 0.109 | benign | -0.658 | Destabilizing | 0.044 | N | 0.45 | neutral | None | None | None | None | N |
| T/S | 0.0745 | likely_benign | 0.0759 | benign | -1.227 | Destabilizing | None | N | 0.106 | neutral | N | 0.445629774 | None | None | N |
| T/V | 0.1005 | likely_benign | 0.1027 | benign | -0.191 | Destabilizing | 0.009 | N | 0.324 | neutral | None | None | None | None | N |
| T/W | 0.3152 | likely_benign | 0.3248 | benign | -0.803 | Destabilizing | 0.55 | D | 0.444 | neutral | None | None | None | None | N |
| T/Y | 0.1396 | likely_benign | 0.1495 | benign | -0.484 | Destabilizing | None | N | 0.217 | 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.