Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23172 | 69739;69740;69741 | chr2:178576730;178576729;178576728 | chr2:179441457;179441456;179441455 |
| N2AB | 21531 | 64816;64817;64818 | chr2:178576730;178576729;178576728 | chr2:179441457;179441456;179441455 |
| N2A | 20604 | 62035;62036;62037 | chr2:178576730;178576729;178576728 | chr2:179441457;179441456;179441455 |
| N2B | 14107 | 42544;42545;42546 | chr2:178576730;178576729;178576728 | chr2:179441457;179441456;179441455 |
| Novex-1 | 14232 | 42919;42920;42921 | chr2:178576730;178576729;178576728 | chr2:179441457;179441456;179441455 |
| Novex-2 | 14299 | 43120;43121;43122 | chr2:178576730;178576729;178576728 | chr2:179441457;179441456;179441455 |
| 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 | None | None | 0.027 | N | 0.375 | 0.177 | 0.194818534648 | gnomAD-4.0.0 | 1.59167E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8593E-06 | 0 | 0 |
| T/I | rs752643010  |
-0.279 | 0.002 | N | 0.232 | 0.129 | 0.222439326576 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| T/I | rs752643010 |
-0.279 | 0.002 | N | 0.232 | 0.129 | 0.222439326576 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs752643010 |
-0.279 | 0.002 | N | 0.232 | 0.129 | 0.222439326576 | gnomAD-4.0.0 | 9.91731E-06 | None | None | None | None | I | None | 1.33601E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.27161E-05 | 0 | 0 |
| T/K | rs752643010 |
-0.627 | 0.062 | N | 0.369 | 0.222 | 0.242244723065 | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.96078E-04 | None | 0 | 0 | 0 |
| T/K | rs752643010 |
-0.627 | 0.062 | N | 0.369 | 0.222 | 0.242244723065 | gnomAD-4.0.0 | 2.05287E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.73551E-04 | 0 | 3.24653E-04 | 1.65689E-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 | 0.0925 | likely_benign | 0.0943 | benign | -0.624 | Destabilizing | 0.027 | N | 0.375 | neutral | N | 0.490957978 | None | None | I |
| T/C | 0.3457 | ambiguous | 0.3604 | ambiguous | -0.355 | Destabilizing | 0.824 | D | 0.367 | neutral | None | None | None | None | I |
| T/D | 0.4589 | ambiguous | 0.463 | ambiguous | 0.009 | Stabilizing | 0.081 | N | 0.355 | neutral | None | None | None | None | I |
| T/E | 0.3286 | likely_benign | 0.3259 | benign | -0.036 | Destabilizing | 0.081 | N | 0.319 | neutral | None | None | None | None | I |
| T/F | 0.212 | likely_benign | 0.2036 | benign | -0.876 | Destabilizing | 0.38 | N | 0.463 | neutral | None | None | None | None | I |
| T/G | 0.2517 | likely_benign | 0.2607 | benign | -0.82 | Destabilizing | 0.081 | N | 0.401 | neutral | None | None | None | None | I |
| T/H | 0.2468 | likely_benign | 0.2575 | benign | -1.082 | Destabilizing | 0.555 | D | 0.421 | neutral | None | None | None | None | I |
| T/I | 0.1151 | likely_benign | 0.1064 | benign | -0.209 | Destabilizing | 0.002 | N | 0.232 | neutral | N | 0.49489544 | None | None | I |
| T/K | 0.19 | likely_benign | 0.2017 | benign | -0.548 | Destabilizing | 0.062 | N | 0.369 | neutral | N | 0.473498833 | None | None | I |
| T/L | 0.0747 | likely_benign | 0.0722 | benign | -0.209 | Destabilizing | 0.035 | N | 0.37 | neutral | None | None | None | None | I |
| T/M | 0.0873 | likely_benign | 0.0816 | benign | 0.102 | Stabilizing | 0.555 | D | 0.384 | neutral | None | None | None | None | I |
| T/N | 0.1449 | likely_benign | 0.1494 | benign | -0.354 | Destabilizing | 0.081 | N | 0.346 | neutral | None | None | None | None | I |
| T/P | 0.4002 | ambiguous | 0.5469 | ambiguous | -0.316 | Destabilizing | 0.317 | N | 0.394 | neutral | D | 0.530586756 | None | None | I |
| T/Q | 0.2235 | likely_benign | 0.2297 | benign | -0.605 | Destabilizing | 0.38 | N | 0.395 | neutral | None | None | None | None | I |
| T/R | 0.1543 | likely_benign | 0.1706 | benign | -0.235 | Destabilizing | None | N | 0.185 | neutral | N | 0.507920665 | None | None | I |
| T/S | 0.1082 | likely_benign | 0.112 | benign | -0.637 | Destabilizing | None | N | 0.15 | neutral | N | 0.482003501 | None | None | I |
| T/V | 0.1076 | likely_benign | 0.1017 | benign | -0.316 | Destabilizing | 0.035 | N | 0.364 | neutral | None | None | None | None | I |
| T/W | 0.5116 | ambiguous | 0.5206 | ambiguous | -0.795 | Destabilizing | 0.935 | D | 0.51 | neutral | None | None | None | None | I |
| T/Y | 0.2953 | likely_benign | 0.3034 | benign | -0.56 | Destabilizing | 0.555 | D | 0.455 | neutral | None | None | 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.